Spinocerebellar ataxia with axonal neuropathy type 1 revisited.
Journal of Clinical Neuroscience(2019)
Abstract
•TDP1 mutation testing should be included in the diagnostic panel of recessive cerebellar ataxia with axonal neuropathy.•The clinical spectrum of spinocerebellar ataxia with axonal neuropathy type 1 (SCAN1) includes mild cognitive deficits.•Common founder mutation could account for the shared haplotype surrounding the TDP1 gene in the affected population.
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Key words
SCAN1,TDP1,RPM
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