Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Using quantitative immunoblotting, we have measured the level of two mammalian neurofilament proteins, the 68-kDa NF-L and the 66-kDa NF-66 (alpha-internexin), in the rat CNS during development. NF-66 is localized in neurons and neuronal processes in both embryonic and postnatal brain. Importantly, NF-66 is more abundant than NF-L in both forebrain and cerebellum during development. The prevalence of NF-66 over NF-L is most pronounced in brain gray matter. The expression of both NF-66 and NF-L increases continuously during the first month after birth. In situ hybridization demonstrated that NF-66, but not NF-L is, expressed in the cerebellar granule cells. Our findings suggest that the neurofilaments are heterogeneous in developmental expression, among neuronal subtypes and in composition. Human NF-66 neurofilament has recently been mapped to chromosome 10q24. Careful analysis of the human genome map indicates NF-66 gene lies within the critical region of infantile-onset spinocerebellar ataxia (IOSCA). The characteristic developmental expression and spatial localization of the NF-66 gene suggests it as a candidate gene for the disease.
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PMID:Heterogeneous expression of neurofilament proteins in forebrain and cerebellum during development: clinical implications for spinocerebellar ataxia. 943 34