Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Corticobasal degeneration (CBD) is a neurodegenerative disease characterised by linear progression, asymmetrical and extrapyramidal symptoms such as rigor and dystonia, as well as by variable cortical symptoms including apraxia, cortical sensory deficits, the alien limb phenomenon and myoclonism of the reflexes. Pathological changes of CBD consist of characteristic taupathology in the gray and white matter. However, there are also patients with neurodegenerative diseases with a different underlying pathology that nevertheless appear clinically as CBD. For that reason, the term corticobasal syndrome (CBS) is commonly used to describe the clinical features, whereas the term CBD is reserved for the pathological entity. Moreover, patients with the typical pathology of CBD can present clinical signs consistent with a clinical diagnosis of Alzheimer's disease (AD) or progressive supranuclear palsy (PSP). We demonstrate this clinico-pathological heterogeneity by presenting two illustrative case reports. The first patient developed the typical clinical symptoms of progressive supranuclear palsy, while exhibiting pathologically CBD. The second patient showed clinical signs of CBS, although pathologically she was diagnosed with Alzheimer's disease. These exemplary cases underscore the need to distinguish carefully between the clinical syndrome of CBS and the pathologically defined entity of CBD.
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PMID:[The diagnostic challenge of corticobasal degeneration: distinction between clinical syndrome and pathology]. 2200 74

Corticobasal syndrome (CBS) is a neurodegenerative disease characterized by progressive asymmetrical rigidity and apraxia, cortical sensory loss, myoclonus, dystonia, and cognitive impairment. CBS is usually sporadic and associated with tau pathology but there are reports of TDP-43 pathology. We screened 39 CBS cases to determine if any of the cases could be explained by a G4C2-repeat expansion in a noncoding region of C9orf72 gene, the most common genetic cause of frontotemporal lobar degeneration and amyotrophic lateral sclerosis. One patient with CBS had a large (>50 repeats) expansion in C9orf72. Our case features a 63-year-old right-handed woman who developed mild apathy 9 years before presentation, which progressed to include behavioral symptoms, oral stereotypies, significant language impairment, parkinsonism and apraxia. A magnetic resonance imaging acquired at age 60 years, that is, 6 years after disease onset revealed significant asymmetric left > right frontotemporal atrophy, including orbitofrontal and parietal areas. Her father developed a behavioral syndrome and died at an early age. This case highlights the importance of genetic screening for C9orf72 in patients with CBS.
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PMID:Mutation analysis of C9orf72 in patients with corticobasal syndrome. 2616 5


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