Materiały źródłowe

• #1 Corticobasal degeneration (corticobasal syndrome) – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/corticobasal-degeneration/symptoms-causes/syc-20354767

  Corticobasal degeneration, also called corticobasal syndrome, is a rare disease that causes areas of the brain to shrink. Over time, nerve cells break down and die. […] Corticobasal degeneration can have several causes. Most commonly, the disease results from a buildup of a protein called tau in brain cells. The buildup of tau may lead to the breakdown of the cells. This can cause symptoms of corticobasal degeneration. […] Half of the people who have symptoms have corticobasal degeneration. But the second most common cause of corticobasal degeneration symptoms is Alzheimer’s disease. Other causes of corticobasal degeneration include progressive supranuclear palsy, Pick’s disease or Creutzfeldt-Jakob disease.

• #2 Corticobasal Degeneration (Corticobasal Syndrome): What It Is

  https://my.clevelandclinic.org/health/diseases/22522-corticobasal-degeneration

  Corticobasal degeneration, also known as corticobasal syndrome, is a neurological disorder that damages and destroys brain cells. It affects your ability to talk, swallow, move and remember. Over time, these symptoms get worse (progress). […] The deterioration (breakdown) and death of brain cells and tissue cause corticobasal degeneration. The breakdown usually starts in your cerebral cortex and basal ganglia. The condition may affect other areas of your brain as it progresses. […] Researchers believe that a protein called tau plays a role in corticobasal degeneration. Tau is a protein found in brain cells. It abnormally clumps together with this condition. These clumps, or neurofibrillary tangles, cause your brain cells to degenerate or die. This leads to problems with movement, speech and memory.

• #3 Corticobasal Degeneration and Corticobasal Syndrome (Chapter 32) – International Compendium of Movement Disorders

  https://www.cambridge.org/core/books/international-compendium-of-movement-disorders/corticobasal-degeneration-and-corticobasal-syndrome/E74AFCCA02082C90D81FFA0FC8A6145A

  Corticobasal degeneration (CBD) is a neurodegenerative disease characterized by abnormal aggregation of hyperphosphorylated 4R-tau in cortical and subcortical areas of the brain. […] It is associated with various clinical phenotypes, such as the characteristic clinical phenotype corticobasal syndrome (CBS), which manifests with asymmetric akinetic-rigid, poorly levodopa-responsive parkinsonism, and cerebral cortical dysfunction. […] Diagnosis of probable or possible CBS and the other CBD-associated syndromes is based on the presence of certain clinical features. […] Pathologic and neuroimaging findings and currently available biological markers are discussed. […] Treatment for CBD and CBS is symptomatic and supportive at present.

• #4 Corticobasal degeneration – Wikipedia

  https://en.wikipedia.org/wiki/Corticobasal_degeneration

  Corticobasal degeneration (CBD) is a rare neurodegenerative disease involving the cerebral cortex and the basal ganglia. […] In recent years corticobasal degeneration has come to be understood as a tauopathy. […] The protein tau is an important microtubule-associated protein (MAP), and is typically found in neuronal axons. However, malfunctioning of the development of the protein can result in unnatural, high-level expression in astrocytes and glial cells. […] This is believed due to the most common indicator of CBD being a faulty tau protein. […] Tau proteins are integral in keeping microtubules stable; defective cells create four microtubule-binding repeats with increased affinity in binding with microtubules. […] Because of this increased affinity, they form insoluble fibers (also called „paired helical filaments”). […] Thus, when tau proteins create unnatural configurations, microtubules become unstable, which eventually leads to cell death.

• #5 Corticobasal Degeneration (Corticobasal Syndrome): What It Is

  https://my.clevelandclinic.org/health/diseases/22522-corticobasal-degeneration

  Corticobasal degeneration, also known as corticobasal syndrome, is a neurological disorder that damages and destroys brain cells. It affects your ability to talk, swallow, move and remember. Over time, these symptoms get worse (progress). […] The deterioration (breakdown) and death of brain cells and tissue cause corticobasal degeneration. The breakdown usually starts in your cerebral cortex and basal ganglia. The condition may affect other areas of your brain as it progresses. […] Researchers believe that a protein called tau plays a role in corticobasal degeneration. Tau is a protein found in brain cells. It abnormally clumps together with this condition. These clumps, or neurofibrillary tangles, cause your brain cells to degenerate or die. This leads to problems with movement, speech and memory.

• #6

  https://www.psp.org/iwanttolearn/corticobasal-degeneration

  Corticobasal degeneration (CBD) is a rare neurodegenerative disorder that has no known cause or cure. […] In people with CBD, some groups of brain cells break down and die off. Central to that process is the abnormal folding and clumping of a protein called tau, which is a normal component of the brain. Its job is to help maintain the microtubules, which are stiff rods that function as the brain cells internal transportation and skeletal system. It appears that the cells death is caused by the tau protein clumps themselves and not by the reduced availability of tau for its normal function. The clumps technical name is neurofibrillary tangles. […] We know several reasons why tau might misfold, but we dont know which one(s) are relevant to CBD. Tau forms similar aggregates in about a dozen other diseases, including Alzheimers disease, PSP, chronic traumatic encephalopathy and about half of all cases of frontotemporal dementia. The specific disease depends on the chemical characteristics of the tau aggregate and which brain cells are involved. We dont yet understand what determines these.

• #7 Corticobasal Syndrome and Corticobasal Degeneration: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1150039-overview

  The tau histopathology in CBD is found predominantly in the corpus callosum and parasagittal and paracentral gyri and correlates with areas of cortical atrophy. […] Abnormal phosphorylation of tau reduces its binding to microtubules and interferes with microtubule function, impairing axonal transport and leading to abnormal tau aggregation. […] The mechanism behind tau hyperphosphorylation in CBD is currently unknown, although some studies have implicated microglial signaling. […] Understanding of the genetic underpinnings of CBD is limited. Although CBD is thought to arise sporadically in the vast majority of cases, several rare mutations in the microtubule-associated protein tau (MAPT) have been implicated as causative for CBS and CBD. […] A genome-wide association study of CBD identified several new CBD susceptibility loci and demonstrated that CBD and PSP share a genetic risk factor other than MAPT at 3p22 MOBP (myelin-associated oligodendrocyte basic protein).

• #8 Corticobasal Syndrome and Corticobasal Degeneration: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1150039-overview

  Corticobasal degeneration (CBD), a sporadic neurodegenerative 4-repeat tauopathy, is a pathologically defined entity associated with several clinical phenotypes. The most common phenotype corticobasal syndrome (CBS) is defined by progressive dementia and typically asymmetric parkinsonism unresponsive to dopaminergic therapy, dystonia, limb apraxia, and myoclonus, but these may occur as a result of a number of other pathologic entities. […] The diagnosis of syndromes associated with CBD pathology is based on history and physical examination, while imaging, serum, and cerebrospinal fluid studies serve an ancillary role. […] CBD may be associated with both cortical and subcortical neuronal loss, neuronal and glial tau pathology (including astrocytic plaques); cortical loss predominantly affecting motor and premotor regions may distinguish this disorder from PSP.

• #9 Corticobasal Degeneration – EyeWiki

  https://eyewiki.org/Corticobasal_Degeneration

  Corticobasal degeneration (CBD) is a rare, progressive neurodegenerative disease characterized by nerve cell loss and atrophy of multiple areas of the brain. […] Specifically, CBD is a tauopathy classified by primarily 4-repeat (4R) tau deposition in different cell types and locations in the brain. […] The exact etiology of CBD is unknown but increased tau phosphorylation and vesicle trafficking dysfunction have been implicated while multiple susceptibility loci for these factors have been discovered. […] It has been proposed that a seeding process induces the propagation of tau pathology in CBD. […] The pathophysiology of CBD is not entirely known. It is hypothesized that tau dysfunction is the main driving force for CBD pathogenesis. […] Certain MAPT mutations, especially in the H1 haplotype, yield dysfunctional 4R-tau or increased 4R-tau.

• #10 Corticobasal degeneration – Wikipedia

  https://en.wikipedia.org/wiki/Corticobasal_degeneration

  Corticobasal degeneration (CBD) is a rare neurodegenerative disease involving the cerebral cortex and the basal ganglia. […] In recent years corticobasal degeneration has come to be understood as a tauopathy. […] The protein tau is an important microtubule-associated protein (MAP), and is typically found in neuronal axons. However, malfunctioning of the development of the protein can result in unnatural, high-level expression in astrocytes and glial cells. […] This is believed due to the most common indicator of CBD being a faulty tau protein. […] Tau proteins are integral in keeping microtubules stable; defective cells create four microtubule-binding repeats with increased affinity in binding with microtubules. […] Because of this increased affinity, they form insoluble fibers (also called „paired helical filaments”). […] Thus, when tau proteins create unnatural configurations, microtubules become unstable, which eventually leads to cell death.

• #11 Neuropathology and emerging biomarkers in corticobasal syndrome | Journal of Neurology, Neurosurgery & Psychiatry

  https://jnnp.bmj.com/content/93/9/919

  Pathologically, CBD can be divided into three subtypes on the basis of the distribution and severity of the lesions: typical CBD, basal ganglia predominant CBD and PSP-like CBD. […] These subtypes correspond well to clinical phenotypes. […] Typical CBD is associated with CBS or frontal behavioral-spatial syndrome. […] The presence of additional pathological processes may also affect clinical phenotypes. […] Recent advances in molecular biomarkers have greatly improved the accuracy of the clinical diagnosis of AD. […] It must be noted, however, that a clinical diagnosis of AD does not rule out other disease processes, such as CBD and PSP. […] A recent study from the Mayo Clinic brain bank reported that 86% of CBD and 89% of PSP had at least minimal AD neuropathological change (ie, Braak neurofibrillary tangle stage 0), and 6% of CBD (11/199) and 10% of PSP (97/1020) met the criteria of neuropathological diagnosis of AD (ie, high AD neuropathological change). […] In addition, one should be cautious in drawing correlations between primary pathological diagnoses and clinical presentations.

• #12 Corticobasal Degeneration | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/157387

  Corticobasal ganglionic degeneration (CBD) is a rare and progressive neurodegenerative disorder with diverse clinical and pathological features. […] Pathologically, CBD is associated with 4-repeat (4R; this refers to the presence of 4 microtubule-binding domains in the tau protein isoform) hyperphosphorylated tau protein inclusions in neurons and glial cells, forming astrocytic plaques. […] Despite advancements in understanding the pathology, the mechanisms underlying tau-induced neurodegeneration remain unclear, and disease-modifying treatments are unavailable. […] At its core, CBD is driven by the pathological accumulation of hyperphosphorylated 4R tau protein, which disrupts microtubule stability, leading to neurodegeneration. […] This tau accumulation results in characteristic pathological findings such as astrocytic plaques, oligodendrocytic coiled bodies, and neurofibrillary tangles.

• #13 Corticobasal Degeneration – EyeWiki

  https://eyewiki.org/Corticobasal_Degeneration

  Corticobasal degeneration (CBD) is a rare, progressive neurodegenerative disease characterized by nerve cell loss and atrophy of multiple areas of the brain. […] Specifically, CBD is a tauopathy classified by primarily 4-repeat (4R) tau deposition in different cell types and locations in the brain. […] The exact etiology of CBD is unknown but increased tau phosphorylation and vesicle trafficking dysfunction have been implicated while multiple susceptibility loci for these factors have been discovered. […] It has been proposed that a seeding process induces the propagation of tau pathology in CBD. […] The pathophysiology of CBD is not entirely known. It is hypothesized that tau dysfunction is the main driving force for CBD pathogenesis. […] Certain MAPT mutations, especially in the H1 haplotype, yield dysfunctional 4R-tau or increased 4R-tau.

• #14 Corticobasal Degeneration – EyeWiki

  https://eyewiki.org/Corticobasal_Degeneration

  Post-translational modifications of 4R-tau are thought to drive neurodegeneration; in particular, hyperphosphorylation is implicated. […] This accumulation of tau is termed tau seeding and results in the recruitment of normal tau by pathological tau species, yielding tau aggregate formation. […] Tau pathology spreads to other cells. Prion-like cell-to-cell spreading has been suggested as an explanation. […] However, it is not completely understood how tau pathology spreads among cell types, but it is hypothesized that the accumulation of tau in astroglia precedes that in neurons.

• #15 Corticobasal Degeneration | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/157387

  Mutations in the microtubule-associated protein tau (MAPT) gene are central to the pathogenesis of CBD due to their role in disrupting membrane-associated 4R tau function. […] The extended MAPT tau haplotype (H1) and homozygosity for H1/H1 significantly increase in pathologically confirmed CBD cases, similar to progressive supranuclear palsy (PSP). […] The neurodegenerative process appears to spread in a prion-like manner across synapses, potentially explaining disease progression. […] Beyond tauopathy, the neurodegenerative cascade in CBD involves mitochondrial dysfunction, impaired axonal transport, inflammation, and synaptic degeneration. […] Neuroinflammation is a key driver, with activated microglia and astrocytes releasing proinflammatory cytokines, including tumor necrosis factor-alpha, interleukin (IL)-1 beta, IL-6, and complement proteins.

• #16 Corticobasal Degeneration – EyeWiki

  https://eyewiki.org/Corticobasal_Degeneration

  Post-translational modifications of 4R-tau are thought to drive neurodegeneration; in particular, hyperphosphorylation is implicated. […] This accumulation of tau is termed tau seeding and results in the recruitment of normal tau by pathological tau species, yielding tau aggregate formation. […] Tau pathology spreads to other cells. Prion-like cell-to-cell spreading has been suggested as an explanation. […] However, it is not completely understood how tau pathology spreads among cell types, but it is hypothesized that the accumulation of tau in astroglia precedes that in neurons.

• #17 Neuropathological features of corticobasal degeneration presenting as corticobasal syndrome or Richardson syndrome

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3212714/

  In particular, those with corticobasal syndrome had greater tau pathology in the primary motor and somatosensory cortices and putamen, while those with Richardson syndrome had greater tau pathology in limbic and hindbrain structures. […] The results suggest that Richardson syndrome can be a clinicopathological presentation of corticobasal degeneration. […] Atrophy of anterior corpus callosum may be a potential neuroimaging marker to differentiate corticobasal degeneration from progressive supranuclear palsy in patients with Richardson syndrome. […] The anatomical distribution of brain atrophy, which reflects neuronal loss and tau pathology, determines the clinical syndrome in corticobasal degeneration, as is true for other neurodegenerative disorders. […] In the present study, distribution of corticobasal degeneration-related tau pathology differed between cases with CBD-CBS compared with CBD-RS.

• #18 Neuropathological features of corticobasal degeneration presenting as corticobasal syndrome or Richardson syndrome

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3212714/

  In cases with CBD-CBS, tau pathology was marked in forebrain structures, including motor and somatosensory cortices and the putamen. […] In patients with CBD-RS, limbic structures, including the hippocampal subfields, dentate gyrus and the anterior nucleus of the thalamus, as well as the tegmentum of the medulla and cerebellar white matter, had more tau pathology compared with patients with CBD-CBS. […] The greater tau burden in the lower brainstem and cerebellum in cases with CBD-RS may explain the clinical overlap with cases with PSP-RS, whereas the relative sparing of the cortex may explain the absence of hallmark cortical signs of corticobasal syndrome. […] The present study indicates that corticobasal degeneration can be the pathological substrate of Richardson syndrome, just as previous studies have shown that progressive supranuclear palsy can be the pathological substrate of corticobasal syndrome.

• #19 Neuropathological features of corticobasal degeneration presenting as corticobasal syndrome or Richardson syndrome

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3212714/

  In cases with CBD-CBS, tau pathology was marked in forebrain structures, including motor and somatosensory cortices and the putamen. […] In patients with CBD-RS, limbic structures, including the hippocampal subfields, dentate gyrus and the anterior nucleus of the thalamus, as well as the tegmentum of the medulla and cerebellar white matter, had more tau pathology compared with patients with CBD-CBS. […] The greater tau burden in the lower brainstem and cerebellum in cases with CBD-RS may explain the clinical overlap with cases with PSP-RS, whereas the relative sparing of the cortex may explain the absence of hallmark cortical signs of corticobasal syndrome. […] The present study indicates that corticobasal degeneration can be the pathological substrate of Richardson syndrome, just as previous studies have shown that progressive supranuclear palsy can be the pathological substrate of corticobasal syndrome.

• #20 Neuropathological features of corticobasal degeneration presenting as corticobasal syndrome or Richardson syndrome

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3212714/

  In cases with CBD-CBS, tau pathology was marked in forebrain structures, including motor and somatosensory cortices and the putamen. […] In patients with CBD-RS, limbic structures, including the hippocampal subfields, dentate gyrus and the anterior nucleus of the thalamus, as well as the tegmentum of the medulla and cerebellar white matter, had more tau pathology compared with patients with CBD-CBS. […] The greater tau burden in the lower brainstem and cerebellum in cases with CBD-RS may explain the clinical overlap with cases with PSP-RS, whereas the relative sparing of the cortex may explain the absence of hallmark cortical signs of corticobasal syndrome. […] The present study indicates that corticobasal degeneration can be the pathological substrate of Richardson syndrome, just as previous studies have shown that progressive supranuclear palsy can be the pathological substrate of corticobasal syndrome.

• #21 Corticobasal Syndrome and Corticobasal Degeneration: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1150039-overview

  The tau histopathology in CBD is found predominantly in the corpus callosum and parasagittal and paracentral gyri and correlates with areas of cortical atrophy. […] Abnormal phosphorylation of tau reduces its binding to microtubules and interferes with microtubule function, impairing axonal transport and leading to abnormal tau aggregation. […] The mechanism behind tau hyperphosphorylation in CBD is currently unknown, although some studies have implicated microglial signaling. […] Understanding of the genetic underpinnings of CBD is limited. Although CBD is thought to arise sporadically in the vast majority of cases, several rare mutations in the microtubule-associated protein tau (MAPT) have been implicated as causative for CBS and CBD. […] A genome-wide association study of CBD identified several new CBD susceptibility loci and demonstrated that CBD and PSP share a genetic risk factor other than MAPT at 3p22 MOBP (myelin-associated oligodendrocyte basic protein).

• #22 Disentangling the neural correlates of corticobasal syndrome and corticobasal degeneration with systematic and quantitative ALE meta-analyses | npj Parkinson’s Disease

  https://www.nature.com/articles/s41531-017-0012-6

  Patients with CBD show widespread deposition of hyperphosphorylated 4-repeat tau in neurons and glia. […] Neuropathologic diagnostic criteria require Gallyas/tau-positive lesions, including neuronal inclusions, threads, coiled bodies, and astrocytic plaques as well as neuronal loss or additionally ballooned/achromatic neurons. […] Based on this tau-histopathology, several clinical phenotypes of CBD may evolve beside the most frequent syndrome CBS. […] Our results reveal that CBS is characterized by gray matter loss in the basal ganglia/thalamus, frontal, parietal and temporal lobes. […] In CBD patients, atrophy in the thalamus, frontal, temporal and occipital lobes was found. […] Most remarkably, in a conjunction analysis focusing on common brain regions affected by both, CBS and CBD, our study identified four brain areas with significant atrophy: (1) the bilateral anterior thalamus, and (2) the bilateral posterior frontomedian cortex, posterior midcingulate cortex and premotor area/supplementary motor area, and, in the left hemisphere, (3) the posterior superior frontal sulcus and middle frontal gyrus/precentral gyrus, and (4) the left posterior superior frontal sulcus and middle frontal gyrus.

• #23 Unravelling Genetic Factors Underlying Corticobasal Syndrome: A Systematic Review

  https://www.mdpi.com/2073-4409/10/1/171

  Corticobasal syndrome (CBS) is an atypical parkinsonian presentation characterized by heterogeneous clinical features and different underlying neuropathology. […] Most CBS cases are sporadic; nevertheless, reports of families and isolated individuals with genetically determined CBS have been reported. […] GRN was the most common gene involved in CBS, representing 28 out of 58 cases, followed by MAPT, C9ORF72, and PRNP. […] A significant association was found between the presence of GRN mutations and specific clinical manifestations shared with FTD, including visuospatial impairment, behavioral changes, aphasia, and language alterations. […] The purpose of this paper is to review relevant publications describing cases of genetically determined CBS and to identify distinctive clinical features that may suggest the most likely associated genetic cause.

• #24 Corticobasal Degeneration (Corticobasal Syndrome): What It Is

  https://my.clevelandclinic.org/health/diseases/22522-corticobasal-degeneration

  Many people with corticobasal degeneration have a genetic variant (mutation) on chromosome 17 called the H1 haplotype. This gene change may increase the production of tau, causing the protein to clump together. Or it may cause a carbon atom and hydrogens (a methyl group) to stick to the tau gene, affecting its function. […] Researchers also know that this gene isnt the only factor that could cause corticobasal degeneration. Most people in the general population have this gene and dont have symptoms of corticobasal degeneration. Research is ongoing to learn more about the cause of this condition.

• #25 Corticobasal Degeneration | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/157387

  Mutations in the microtubule-associated protein tau (MAPT) gene are central to the pathogenesis of CBD due to their role in disrupting membrane-associated 4R tau function. […] The extended MAPT tau haplotype (H1) and homozygosity for H1/H1 significantly increase in pathologically confirmed CBD cases, similar to progressive supranuclear palsy (PSP). […] The neurodegenerative process appears to spread in a prion-like manner across synapses, potentially explaining disease progression. […] Beyond tauopathy, the neurodegenerative cascade in CBD involves mitochondrial dysfunction, impaired axonal transport, inflammation, and synaptic degeneration. […] Neuroinflammation is a key driver, with activated microglia and astrocytes releasing proinflammatory cytokines, including tumor necrosis factor-alpha, interleukin (IL)-1 beta, IL-6, and complement proteins.

• #26 Corticobasal Syndrome and Corticobasal Degeneration Clinical Presentation: History, Physical, Causes

  https://emedicine.medscape.com/article/1150039-clinical

  The ultimate cause of corticobasal degeneration (CBD) is currently unknown, although symptoms are thought to be associated with progression of 4-repeat tau pathology and associated neuronal loss. […] H1 tau haplotype homozygosity is associated with a predisposition to develop CBD and progressive supranuclear palsy (PSP). […] Rare mutations in the MAPT gene have been associated with CBD, as have C9orf72 repeat expansions and GRN (progranulin) mutations.

• #27 Corticobasal Degeneration (Corticobasal Syndrome): What It Is

  https://my.clevelandclinic.org/health/diseases/22522-corticobasal-degeneration

  Many people with corticobasal degeneration have a genetic variant (mutation) on chromosome 17 called the H1 haplotype. This gene change may increase the production of tau, causing the protein to clump together. Or it may cause a carbon atom and hydrogens (a methyl group) to stick to the tau gene, affecting its function. […] Researchers also know that this gene isnt the only factor that could cause corticobasal degeneration. Most people in the general population have this gene and dont have symptoms of corticobasal degeneration. Research is ongoing to learn more about the cause of this condition.

• #28 Corticobasal Degeneration (Corticobasal Syndrome): What It Is

  https://my.clevelandclinic.org/health/diseases/22522-corticobasal-degeneration

  Many people with corticobasal degeneration have a genetic variant (mutation) on chromosome 17 called the H1 haplotype. This gene change may increase the production of tau, causing the protein to clump together. Or it may cause a carbon atom and hydrogens (a methyl group) to stick to the tau gene, affecting its function. […] Researchers also know that this gene isnt the only factor that could cause corticobasal degeneration. Most people in the general population have this gene and dont have symptoms of corticobasal degeneration. Research is ongoing to learn more about the cause of this condition.

• #29 Corticobasal Syndrome and Corticobasal Degeneration Clinical Presentation: History, Physical, Causes

  https://emedicine.medscape.com/article/1150039-clinical

  The ultimate cause of corticobasal degeneration (CBD) is currently unknown, although symptoms are thought to be associated with progression of 4-repeat tau pathology and associated neuronal loss. […] H1 tau haplotype homozygosity is associated with a predisposition to develop CBD and progressive supranuclear palsy (PSP). […] Rare mutations in the MAPT gene have been associated with CBD, as have C9orf72 repeat expansions and GRN (progranulin) mutations.

• #30 Unravelling Genetic Factors Underlying Corticobasal Syndrome: A Systematic Review

  https://www.mdpi.com/2073-4409/10/1/171

  Corticobasal syndrome (CBS) is an atypical parkinsonian presentation characterized by heterogeneous clinical features and different underlying neuropathology. […] Most CBS cases are sporadic; nevertheless, reports of families and isolated individuals with genetically determined CBS have been reported. […] GRN was the most common gene involved in CBS, representing 28 out of 58 cases, followed by MAPT, C9ORF72, and PRNP. […] A significant association was found between the presence of GRN mutations and specific clinical manifestations shared with FTD, including visuospatial impairment, behavioral changes, aphasia, and language alterations. […] The purpose of this paper is to review relevant publications describing cases of genetically determined CBS and to identify distinctive clinical features that may suggest the most likely associated genetic cause.

• #31 Corticobasal Syndrome and Corticobasal Degeneration: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1150039-overview

  The tau histopathology in CBD is found predominantly in the corpus callosum and parasagittal and paracentral gyri and correlates with areas of cortical atrophy. […] Abnormal phosphorylation of tau reduces its binding to microtubules and interferes with microtubule function, impairing axonal transport and leading to abnormal tau aggregation. […] The mechanism behind tau hyperphosphorylation in CBD is currently unknown, although some studies have implicated microglial signaling. […] Understanding of the genetic underpinnings of CBD is limited. Although CBD is thought to arise sporadically in the vast majority of cases, several rare mutations in the microtubule-associated protein tau (MAPT) have been implicated as causative for CBS and CBD. […] A genome-wide association study of CBD identified several new CBD susceptibility loci and demonstrated that CBD and PSP share a genetic risk factor other than MAPT at 3p22 MOBP (myelin-associated oligodendrocyte basic protein).

• #32 Corticobasal Degeneration | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/157387

  Mutations in the microtubule-associated protein tau (MAPT) gene are central to the pathogenesis of CBD due to their role in disrupting membrane-associated 4R tau function. […] The extended MAPT tau haplotype (H1) and homozygosity for H1/H1 significantly increase in pathologically confirmed CBD cases, similar to progressive supranuclear palsy (PSP). […] The neurodegenerative process appears to spread in a prion-like manner across synapses, potentially explaining disease progression. […] Beyond tauopathy, the neurodegenerative cascade in CBD involves mitochondrial dysfunction, impaired axonal transport, inflammation, and synaptic degeneration. […] Neuroinflammation is a key driver, with activated microglia and astrocytes releasing proinflammatory cytokines, including tumor necrosis factor-alpha, interleukin (IL)-1 beta, IL-6, and complement proteins.

• #33 Corticobasal Degeneration | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/157387

  Mutations in the microtubule-associated protein tau (MAPT) gene are central to the pathogenesis of CBD due to their role in disrupting membrane-associated 4R tau function. […] The extended MAPT tau haplotype (H1) and homozygosity for H1/H1 significantly increase in pathologically confirmed CBD cases, similar to progressive supranuclear palsy (PSP). […] The neurodegenerative process appears to spread in a prion-like manner across synapses, potentially explaining disease progression. […] Beyond tauopathy, the neurodegenerative cascade in CBD involves mitochondrial dysfunction, impaired axonal transport, inflammation, and synaptic degeneration. […] Neuroinflammation is a key driver, with activated microglia and astrocytes releasing proinflammatory cytokines, including tumor necrosis factor-alpha, interleukin (IL)-1 beta, IL-6, and complement proteins.

• #34 Corticobasal Degeneration | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/157387

  Mutations in the microtubule-associated protein tau (MAPT) gene are central to the pathogenesis of CBD due to their role in disrupting membrane-associated 4R tau function. […] The extended MAPT tau haplotype (H1) and homozygosity for H1/H1 significantly increase in pathologically confirmed CBD cases, similar to progressive supranuclear palsy (PSP). […] The neurodegenerative process appears to spread in a prion-like manner across synapses, potentially explaining disease progression. […] Beyond tauopathy, the neurodegenerative cascade in CBD involves mitochondrial dysfunction, impaired axonal transport, inflammation, and synaptic degeneration. […] Neuroinflammation is a key driver, with activated microglia and astrocytes releasing proinflammatory cytokines, including tumor necrosis factor-alpha, interleukin (IL)-1 beta, IL-6, and complement proteins.

• #35 Corticobasal Degeneration | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/157387

  Mutations in the microtubule-associated protein tau (MAPT) gene are central to the pathogenesis of CBD due to their role in disrupting membrane-associated 4R tau function. […] The extended MAPT tau haplotype (H1) and homozygosity for H1/H1 significantly increase in pathologically confirmed CBD cases, similar to progressive supranuclear palsy (PSP). […] The neurodegenerative process appears to spread in a prion-like manner across synapses, potentially explaining disease progression. […] Beyond tauopathy, the neurodegenerative cascade in CBD involves mitochondrial dysfunction, impaired axonal transport, inflammation, and synaptic degeneration. […] Neuroinflammation is a key driver, with activated microglia and astrocytes releasing proinflammatory cytokines, including tumor necrosis factor-alpha, interleukin (IL)-1 beta, IL-6, and complement proteins.

• #36 SciELO Brazil – Cognitive dysfunction in corticobasal degeneration Cognitive dysfunction in corticobasal degeneration

  https://www.scielo.br/j/anp/a/kTtcj3kXZffSZPn4Mm5rTvK/

  Corticobasal degeneration (CBD) was originally described as a distinct clinicopathological entity in 1967. […] In addition, pathophysiological findings and the molecular basis have been delineated and several aspects of its cognitive manifestations have been clarified. […] Cognitive deficits in CBD are now recognized as a frequent initial presentation and may appear up to eight years before the motor symptoms, depending on the phenotypic variant. […] Characteristic cognitive features of CBD involve language deficits, visuospatial and executive dysfunctions, apraxia, and behavioral disorders. […] The aim of this review was to provide a comprehensive review of the clinical features of CBD, focusing on the cognitive aspects of the disease. […] The processes that induce tau phosphorylation are currently unknown but might involve microglia signaling triggered by neuroinflammation.

• #37 Corticobasal Degeneration | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/157387

  Mutations in the microtubule-associated protein tau (MAPT) gene are central to the pathogenesis of CBD due to their role in disrupting membrane-associated 4R tau function. […] The extended MAPT tau haplotype (H1) and homozygosity for H1/H1 significantly increase in pathologically confirmed CBD cases, similar to progressive supranuclear palsy (PSP). […] The neurodegenerative process appears to spread in a prion-like manner across synapses, potentially explaining disease progression. […] Beyond tauopathy, the neurodegenerative cascade in CBD involves mitochondrial dysfunction, impaired axonal transport, inflammation, and synaptic degeneration. […] Neuroinflammation is a key driver, with activated microglia and astrocytes releasing proinflammatory cytokines, including tumor necrosis factor-alpha, interleukin (IL)-1 beta, IL-6, and complement proteins.

• #38 Corticobasal syndrome: a practical guide | Practical Neurology

  https://pn.bmj.com/content/21/4/276

  Corticobasal syndrome is a disorder of movement, cognition and behaviour with several possible underlying pathologies, including corticobasal degeneration. […] Corticobasal degeneration is a pathologically established four-repeat tauopathy. Its pathological features are cortical and striatal tau-positive neuronal and glial lesions of both white and grey matter, coupled with focal cortical and substantia nigra neuronal loss. […] Importantly, there is not a 1:1 mapping between corticobasal degeneration and corticobasal syndrome, and corticobasal degeneration pathology is associated with various clinical phenotypes. […] Probable corticobasal degeneration criteria require an insidious onset and gradual progression for at least 1 year, age at onset 50 years, no similar family history or known tau mutations, and one of the clinical phenotypes outlined above.

• #39 The significant characteristics of corticobasal syndrome – Parthimos – Annals of Research Hospitals

  https://arh.amegroups.org/article/view/4676/html

  Corticobasal syndrome (CBS) is a rare neurodegenerative disorder. Mutation in the microtubule associated protein tau (MAPT) has been presented in patients with CBS. Also, a mutation in the gene that encodes progranulin (PGRN) is frequently observed in CBS patients. CBS is associated with a variety of underlying pathologies with CBD pathology represent 50%. More specifically, a wide spectrum of diseases has been associated with CBS, including several proteinopathies such as amyloidopathies, tauopathies, TDP-opathies, synucleinopathies and prionopathies. The most common associations refer to CBD, are progressive supranuclear palsy (PSP) and Alzheimer’s Disease (AD) pathology. Biochemical features could only be available after an autopsy as the diagnosis of the underlying cause of CBS is possibly only through postmortem brain analysis. The results of postmortem brain analyses have shown that the majority of causes in CBS are tauopathies.

• #40 Corticobasal syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Corticobasal_syndrome

  Corticobasal syndrome (CBS) is a rare, progressive atypical Parkinsonism syndrome and is a tauopathy related to frontotemporal dementia. CBS is typically caused by the deposit of tau proteins forming in different areas of the brain. […] CBD is the pathology underlying approximately 50% of CBS cases. […] The symptoms of classic CBS differ from CBD in that CBD also includes cognitive deficits in the executive functions.

• #41 Neuropathology and emerging biomarkers in corticobasal syndrome | Journal of Neurology, Neurosurgery & Psychiatry

  https://jnnp.bmj.com/content/93/9/919

  Corticobasal syndrome (CBS) is a clinical syndrome characterised by progressive asymmetric limb rigidity and apraxia with dystonia, myoclonus, cortical sensory loss and alien limb phenomenon. […] Corticobasal degeneration (CBD) is one of the most common underlying pathologies of CBS, but other disorders, such as progressive supranuclear palsy (PSP), Alzheimers disease (AD) and frontotemporal lobar degeneration with TDP-43 inclusions, are also associated with this syndrome. […] Clinicopathological studies on neurodegenerative disorders associated with CBS have shown that regardless of the underlying pathology, frontoparietal, as well as motor and premotor pathology is associated with CBS. […] Although the current clinical diagnostic criteria for CBS have suboptimal sensitivity and specificity, emerging biomarkers hold promise for future improvements in the diagnosis of underlying pathology in patients with CBS.

• #42 Corticobasal Syndrome – Frontotemporal Degeneration | AFTD

  https://www.theaftd.org/what-is-ftd/corticobasal-syndrome/

  Corticobasal degeneration is characterized by nerve cell loss, gliosis and atrophy (shrinkage) of the deeper layers in the posterior frontal and/or parietal lobes, and the substantia nigra. […] Different underlying protein pathologies can be found at autopsy in clinically diagnosed CBS that may be FTLD related tau protein (4R type) or TDP43 protein. […] Alternatively, Alzheimer’s disease pathology has been observed with amyloid plaques and tau tangles, or alpha synuclein protein pathology more typical of Lewy body disease.

• #43 Neuropathology and emerging biomarkers in corticobasal syndrome | Journal of Neurology, Neurosurgery & Psychiatry

  https://jnnp.bmj.com/content/93/9/919

  Pathologically, CBD can be divided into three subtypes on the basis of the distribution and severity of the lesions: typical CBD, basal ganglia predominant CBD and PSP-like CBD. […] These subtypes correspond well to clinical phenotypes. […] Typical CBD is associated with CBS or frontal behavioral-spatial syndrome. […] The presence of additional pathological processes may also affect clinical phenotypes. […] Recent advances in molecular biomarkers have greatly improved the accuracy of the clinical diagnosis of AD. […] It must be noted, however, that a clinical diagnosis of AD does not rule out other disease processes, such as CBD and PSP. […] A recent study from the Mayo Clinic brain bank reported that 86% of CBD and 89% of PSP had at least minimal AD neuropathological change (ie, Braak neurofibrillary tangle stage 0), and 6% of CBD (11/199) and 10% of PSP (97/1020) met the criteria of neuropathological diagnosis of AD (ie, high AD neuropathological change). […] In addition, one should be cautious in drawing correlations between primary pathological diagnoses and clinical presentations.

• #44 Corticobasal Syndrome – Frontotemporal Degeneration | AFTD

  https://www.theaftd.org/what-is-ftd/corticobasal-syndrome/

  Corticobasal degeneration is characterized by nerve cell loss, gliosis and atrophy (shrinkage) of the deeper layers in the posterior frontal and/or parietal lobes, and the substantia nigra. […] Different underlying protein pathologies can be found at autopsy in clinically diagnosed CBS that may be FTLD related tau protein (4R type) or TDP43 protein. […] Alternatively, Alzheimer’s disease pathology has been observed with amyloid plaques and tau tangles, or alpha synuclein protein pathology more typical of Lewy body disease.

• #45 Corticobasal Syndrome – Frontotemporal Degeneration | AFTD

  https://www.theaftd.org/what-is-ftd/corticobasal-syndrome/

  Corticobasal degeneration is characterized by nerve cell loss, gliosis and atrophy (shrinkage) of the deeper layers in the posterior frontal and/or parietal lobes, and the substantia nigra. […] Different underlying protein pathologies can be found at autopsy in clinically diagnosed CBS that may be FTLD related tau protein (4R type) or TDP43 protein. […] Alternatively, Alzheimer’s disease pathology has been observed with amyloid plaques and tau tangles, or alpha synuclein protein pathology more typical of Lewy body disease.

• #46 Neuropathology and emerging biomarkers in corticobasal syndrome | Journal of Neurology, Neurosurgery & Psychiatry

  https://jnnp.bmj.com/content/93/9/919

  Pathologically, CBD can be divided into three subtypes on the basis of the distribution and severity of the lesions: typical CBD, basal ganglia predominant CBD and PSP-like CBD. […] These subtypes correspond well to clinical phenotypes. […] Typical CBD is associated with CBS or frontal behavioral-spatial syndrome. […] The presence of additional pathological processes may also affect clinical phenotypes. […] Recent advances in molecular biomarkers have greatly improved the accuracy of the clinical diagnosis of AD. […] It must be noted, however, that a clinical diagnosis of AD does not rule out other disease processes, such as CBD and PSP. […] A recent study from the Mayo Clinic brain bank reported that 86% of CBD and 89% of PSP had at least minimal AD neuropathological change (ie, Braak neurofibrillary tangle stage 0), and 6% of CBD (11/199) and 10% of PSP (97/1020) met the criteria of neuropathological diagnosis of AD (ie, high AD neuropathological change). […] In addition, one should be cautious in drawing correlations between primary pathological diagnoses and clinical presentations.

• #47 Corticobasal Degeneration (CBD) – Brain Support Network

  https://www.brainsupportnetwork.org/education/corticobasal-degeneration/

  The medication that can be prescribed and any other treatments are focused on a few symptoms that may respond to medication or treatments such as depression, urinary incontinence, and dry eyes. There is no evidence that any of the Parkinsons medications (levodopa therapy) or Alzheimers medications are helpful in CBD/CBS. […] The diagnostic criteria listed in this section are derived from the paper Criteria for the diagnosis of corticobasal degeneration, Armstrong, et al. published in Neurology in 2013. […] The paper explains CBD in terms of four distinct types (phenotypes) of the disease. These are: corticobasal syndrome (CBS), frontal behavioral-spatial syndrome (FBS), nonfluent/agrammatic variant of primary progressive aphasia (naPPA), progressive supranuclear palsy syndrome (PSPS).

• #48 Neuropathology and emerging biomarkers in corticobasal syndrome | Journal of Neurology, Neurosurgery & Psychiatry

  https://jnnp.bmj.com/content/93/9/919

  Corticobasal syndrome (CBS) is a clinical syndrome characterised by progressive asymmetric limb rigidity and apraxia with dystonia, myoclonus, cortical sensory loss and alien limb phenomenon. […] Corticobasal degeneration (CBD) is one of the most common underlying pathologies of CBS, but other disorders, such as progressive supranuclear palsy (PSP), Alzheimers disease (AD) and frontotemporal lobar degeneration with TDP-43 inclusions, are also associated with this syndrome. […] Clinicopathological studies on neurodegenerative disorders associated with CBS have shown that regardless of the underlying pathology, frontoparietal, as well as motor and premotor pathology is associated with CBS. […] Although the current clinical diagnostic criteria for CBS have suboptimal sensitivity and specificity, emerging biomarkers hold promise for future improvements in the diagnosis of underlying pathology in patients with CBS.

• #49 Corticobasal Syndrome and Corticobasal Degeneration: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1150039-overview

  Corticobasal degeneration (CBD), a sporadic neurodegenerative 4-repeat tauopathy, is a pathologically defined entity associated with several clinical phenotypes. The most common phenotype corticobasal syndrome (CBS) is defined by progressive dementia and typically asymmetric parkinsonism unresponsive to dopaminergic therapy, dystonia, limb apraxia, and myoclonus, but these may occur as a result of a number of other pathologic entities. […] The diagnosis of syndromes associated with CBD pathology is based on history and physical examination, while imaging, serum, and cerebrospinal fluid studies serve an ancillary role. […] CBD may be associated with both cortical and subcortical neuronal loss, neuronal and glial tau pathology (including astrocytic plaques); cortical loss predominantly affecting motor and premotor regions may distinguish this disorder from PSP.

• #50 Corticobasal Syndrome and Corticobasal Degeneration: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1150039-overview

  Corticobasal degeneration (CBD), a sporadic neurodegenerative 4-repeat tauopathy, is a pathologically defined entity associated with several clinical phenotypes. The most common phenotype corticobasal syndrome (CBS) is defined by progressive dementia and typically asymmetric parkinsonism unresponsive to dopaminergic therapy, dystonia, limb apraxia, and myoclonus, but these may occur as a result of a number of other pathologic entities. […] The diagnosis of syndromes associated with CBD pathology is based on history and physical examination, while imaging, serum, and cerebrospinal fluid studies serve an ancillary role. […] CBD may be associated with both cortical and subcortical neuronal loss, neuronal and glial tau pathology (including astrocytic plaques); cortical loss predominantly affecting motor and premotor regions may distinguish this disorder from PSP.

• #51 The significant characteristics of corticobasal syndrome – Parthimos – Annals of Research Hospitals

  https://arh.amegroups.org/article/view/4676/html

  Over the last years, there have been numerous advances in descriptions of genetic causes of CBS. However, the genetics of CBS cases is mainly unknown and sporadic. Mutation in the microtubule associated protein tau (MAPT) has been presented in patients with CBS. Also, mutation in the gene that encodes progranulin (PGRN) is frequently observed in CBS patients. In addition, a pathogenetic C9orf72 repeat expansion has associated with CBS, especially in patients with FTD or amyotrophic lateral sclerosis (ALS). […] The CBS belongs to dementia family syndromes. The main clinical characteristics are levodopa-unresponsive parkinsonism, asymmetric akinesia and rigidity in combination with dystonia, myoclonus, and limb apraxia. The most significant microscopic findings, with regard to differential diagnosis, are threads in gray and white matter, astrocytic plaques concerning glia lesions, ballooned neurons and oligodendroglial tau inclusions. MRI pathognomonic results are as follow: atrophy of gray matter in the primary motor cortex, inferior parietal area, left supplementary motor area and basal ganglia. The therapeutic process is related to many schemas such as levodopa, benzodiazepines, anticholinergics, muscle relaxants, Acetylcholinesterase inhibitors, selective serotonin reuptake inhibitors, atypical neuroleptics and mood-stabilizing agents.

• #52 Impairment of intermediate somatosensory function in corticobasal syndrome | Scientific Reports

  https://www.nature.com/articles/s41598-020-67991-7

  The present study suggests that two tests may effectively detect intermediate somatosensory dysfunction in CBS and are thus recommended: tactile object naming and 2-point discrimination. […] Results of the VBM analysis showed that the volume of the left post- and pre-central gyrus, and bilateral supplementary motor area, were significantly decreased in the CBS group compared to the PD group. […] Thus, in CBS patients, degeneration of the post- and pre-central gyrus, and the supplementary motor area, might be involved in the occurrence of clumsy limb. […] Although a treatment for CBS is not yet available, early and correct diagnosis might be possible by performing a close examination of intermediate somatosensory function which may lead to new approaches to appropriate treatment strategies.

• #53 Neuropathological features of corticobasal degeneration presenting as corticobasal syndrome or Richardson syndrome

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3212714/

  In cases with CBD-CBS, tau pathology was marked in forebrain structures, including motor and somatosensory cortices and the putamen. […] In patients with CBD-RS, limbic structures, including the hippocampal subfields, dentate gyrus and the anterior nucleus of the thalamus, as well as the tegmentum of the medulla and cerebellar white matter, had more tau pathology compared with patients with CBD-CBS. […] The greater tau burden in the lower brainstem and cerebellum in cases with CBD-RS may explain the clinical overlap with cases with PSP-RS, whereas the relative sparing of the cortex may explain the absence of hallmark cortical signs of corticobasal syndrome. […] The present study indicates that corticobasal degeneration can be the pathological substrate of Richardson syndrome, just as previous studies have shown that progressive supranuclear palsy can be the pathological substrate of corticobasal syndrome.

• #54 SciELO Brazil – Cognitive dysfunction in corticobasal degeneration Cognitive dysfunction in corticobasal degeneration

  https://www.scielo.br/j/anp/a/kTtcj3kXZffSZPn4Mm5rTvK/

  Morphological analysis with characterization of the cell types and anatomical areas involved, along with evaluation of different tau isoforms (reflecting biochemical heterogeneity) are key steps to distinguishing among different tauopathies. […] The characteristic microscopic features of CBD are cortical and striatal tau-related neuronal inclusions, accompanied by astrocytic plaques. […] The distinct astroglial tau-pathology and the predominant involvement of the forebrain in CBD and the hindbrain in PSP help to distinguish these two conditions. […] The assessment of tau and phosphorylated tau are useful biomarkers in recently-established AD, but have yielded varied results in CBD. […] The CBD cognitive deficits are related to the predominantly-affected cerebral hemisphere and include apraxia, visuospatial dysfunction, language impairment, executive dysfunction and behavioral changes with relatively preserved episodic and semantic memories that will be discussed in detail below.

• #55 Corticobasal Degeneration | Pacific Movement Disorders

  https://www.pacificneuroscienceinstitute.org/movement-disorders/conditions/atypical-parkinsonism/corticobasal-degeneration/

  Corticobasal degeneration (CBD) is extremely rare and manifests as very asymmetric (often unilateral) parkinsonism with rigidity, apraxia (trouble coordinating the limb to accomplish a task), myoclonus (muscle jerks), dystonia, and rarely a condition known as alien limb syndrome, where the limb has complex movements of its own accord. […] Corticobasal degeneration is a different condition pathologically than Parkinsons disease (PD); it is known as a tauopathy, meaning that the tau protein misfolds and causes disruption of neuron function, whereas in PD the abnormal protein is called alpha-synuclein. […] Research is being done to develop imaging that directly measures tau protein deposition, which will enable more specific and accurate diagnosis. […] There are small studies that are enrolling to modify the tau protein but are in very early stages.

• #56 Corticobasal degeneration (corticobasal syndrome) | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/corticobasal-degeneration-corticobasal-syndrome?content_id=CON-20209448

  Corticobasal degeneration, also called corticobasal syndrome, is a rare disease that causes areas of the brain to shrink. Over time, nerve cells break down and die. […] Most commonly, the disease results from a buildup of a protein called tau in brain cells. The buildup of tau may lead to the breakdown of the cells. This can cause symptoms of corticobasal degeneration. […] Positron emission tomography (PET) scans can identify brain changes related to corticobasal degeneration. However, more research needs to be done in this area.

• #57 SciELO Brazil – Pharmacological interventions in corticobasal degeneration: a review Pharmacological interventions in corticobasal degeneration: a review

  https://www.scielo.br/j/dn/a/H9QPjg9FZdks9zWLsphZdHj/

  Corticobasal degeneration (CBD) is a sporadic tauopathy that presents with a varied combination of motor, cognitive, and behavioral features, making its diagnosis difficult. […] CBD has high morbidity and poor prognosis, with no effective therapy at present. […] Few attempts have been made to study drug options and drug efficacy in CBD systematically, and an effective treatment is not yet available. Treatment is symptomatic and based on similarity with other diseases due to the scarcity of studies specifically addressing CBD. […] CBD presents high morbidity and poor prognosis because of the lack of effective therapy at present. Treatment is symptomatic and based on features of other similar diseases due to the scarcity of studies focused on CBD. […] The articles found about CBD revealed that treatments can belong to one of two main approaches: (1) research studies aimed at underlying tauopathy and (2) symptomatic management.

• #58

  https://link.springer.com/article/10.1007/s11940-016-0422-5

  There are currently no disease-modifying treatments for progressive supranuclear palsy (PSP) or corticobasal degeneration (CBD), and no approved pharmacological or therapeutic treatments that are effective in controlling their symptoms. […] The diagnoses of PSP and CBD are difficult due to the lack of specific biomarkers and is further complicated by the fact that many of the clinical features of PSP and CBD overlap with each other and with other neurodegenerative diseases, including multiple system atrophy (MSA) and disorders within the frontotemporal dementia spectrum (behavioral variant FTDbvFTD and primary progressive aphasiaPPA). […] Disease-modifying therapies for PSP and CBD have targeted tau pathology. […] However, in a randomized, double-blind, placebo-controlled trial of 146 patients with PSP Tideglusib, a GSK-3 inhibitor, although well tolerated, was not shown to be clinically effective.

• #59 Corticobasal degeneration | MedLink Neurology

  https://www.medlink.com/articles/corticobasal-degeneration

  The pathological process can involve different tau isoforms such as 3R-tau, 4R-tau, or mixed 3R-/4R-tau isoforms. […] Corticobasal degeneration has been recognized as a 4R-taupathy. […] The presence of tau pathology in astrocytes is now considered to be pathognomonic for corticobasal degeneration. […] Corticobasal degeneration can be distinguished pathologically from the other tauopathies, progressive supranuclear palsy, and frontotemporal dementia, but variants of frontotemporal dementia may be more difficult to distinguish. […] Studies of tau protein demonstrate that corticobasal degeneration shares a common genetic background with progressive supranuclear palsy. […] Given the pathology, it is not surprising that with further use of genetics in corticobasal degeneration that tau associated genes are being discovered as potential underlying etiologies of the disease. […] Several experimental approaches in animal models have attempted to reduce the tau-burden in neurodegeneration.

• #60 Progressive supranuclear palsy & Parkinson’s disease | APDA

  https://www.apdaparkinson.org/progressive-supranuclear-palsy-corticobasal-degeneration/

  Both diseases are caused by abnormal deposition and spread of misfolded tau protein in the brain. Hence, they are referred to as tauopathies. […] In CBD, both the cortex, which is the topmost layer of the brain responsible for language, skilled movements and awareness of the body; and the basal ganglia, the deeper parts of the brain, are affected. […] The symptoms of CBD tend to be very asymmetrical, with one side of the body being predominantly affected. […] While the definite diagnosis of CBD can only be made at autopsy, the term corticobasal syndrome (CBS) is used to describe the most common signs and symptoms of the disorder which include: […] As in PSP, there is no specific medication for CBD and symptoms are typically not responsive to Levodopa. […] Since ageing is the biggest risk factor for APS, the prevalence of PSP and CBD is expected to increase in the coming years. Therefore, there is a pressing need for tests that can diagnose these disorders early and accurately, and treatments that will stop their progression before they become disabling. […] Clinical research continues to focus on strategies to reduce the amount of tau protein in the brain or to slow down the mechanism by which it is produced and spread.

• #61

  https://link.springer.com/article/10.1007/s11940-016-0422-5

  There are currently no disease-modifying treatments for progressive supranuclear palsy (PSP) or corticobasal degeneration (CBD), and no approved pharmacological or therapeutic treatments that are effective in controlling their symptoms. […] The diagnoses of PSP and CBD are difficult due to the lack of specific biomarkers and is further complicated by the fact that many of the clinical features of PSP and CBD overlap with each other and with other neurodegenerative diseases, including multiple system atrophy (MSA) and disorders within the frontotemporal dementia spectrum (behavioral variant FTDbvFTD and primary progressive aphasiaPPA). […] Disease-modifying therapies for PSP and CBD have targeted tau pathology. […] However, in a randomized, double-blind, placebo-controlled trial of 146 patients with PSP Tideglusib, a GSK-3 inhibitor, although well tolerated, was not shown to be clinically effective.

• #62 Corticobasal Degeneration | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/157387

  The asymmetric distribution of cortical and basal ganglia involvement correlates with the asymmetric clinical presentation of motor and cognitive deficits. […] Despite these advances, the precise triggers of tauopathy and the full extent of pathogenic pathways in CBD remain incompletely understood, underscoring the need for further research to facilitate targeted therapeutic development.

• #63 Corticobasal Degeneration | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/157387

  The asymmetric distribution of cortical and basal ganglia involvement correlates with the asymmetric clinical presentation of motor and cognitive deficits. […] Despite these advances, the precise triggers of tauopathy and the full extent of pathogenic pathways in CBD remain incompletely understood, underscoring the need for further research to facilitate targeted therapeutic development.

• #64 Corticobasal Degeneration | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/157387

  The asymmetric distribution of cortical and basal ganglia involvement correlates with the asymmetric clinical presentation of motor and cognitive deficits. […] Despite these advances, the precise triggers of tauopathy and the full extent of pathogenic pathways in CBD remain incompletely understood, underscoring the need for further research to facilitate targeted therapeutic development.

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