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Spinocerebellar ataxias (SCAs) are heterogeneous dominantly inherited neurodegenerative disorders, clinically characterized by variable degrees of cerebellar and brainstem degeneration and dysfunction. Symptoms appear during the third or fourth decade: progressive cerebellar ataxia variably associated with ophthalmoplegia, pyramidal and extrapyramidal signs, deep sensory loss, amyotrophy, and dementia. At least 23 loci have been implicated, and nucleotide repeat expansions in nine different genes have been identified.1,2⇓ Recently, point mutations in the FGF14 and PRKCG/SCA14 genes were detected in some families, but their relative frequencies are unknown.3,4⇓
FGF14 is a member of the fibroblast growth factor protein family that is …
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