CAPN1 mutations are associated with a syndrome of combined spasticity and ataxia
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DOI: 10.1007/s00415-017-8464-5
Abstract: Hereditary spastic paraplegias (HSPs) are a heterogeneous group of inherited neurological disorders that are characterized by pyramidal tract affection and variable other neurological manifestations [2]. Mutations in the CAPN1 gene have recently been identified as… read more here.
Keywords: ataxia; spasticity; capn1 mutations; capn1 ... See more keywords