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Article

The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case

22 Nov 2018

Abstract excerpt

Spastic paraplegia 30 is a recently established autosomal recessive disease characterized by a complex form of spastic paraplegia associated with neuropathy. Homozygous mutations of KIF1A reportedly lead to hereditary spastic paraplegia or hereditary sensory and autonomic neuropathy type 2 (HSAN2), whereas heterozygous mutations can cause nonsyndromic and syndromic intellectual disability (MRD9). Here we report...

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PMID: 30582020
DOI: 10.1016/j.ensci.2018.11.026

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