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

ABSTRACT: 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 the case of a 37-year-old female who presented with gait disturbance complicated with moyamoya disease. Results:The patient exhibited hypotonia during infancy, after which intellectual disability, epileptic fits, spastic paraplegia, and cerebellar atrophy occurred. Genetic analysis revealed a novel de novo mutation (c.254C?>?A, p.A85D) in the motor domain of KIF1A.

SUBMITTER: Yoshikawa K

PROVIDER: S-EPMC6297067 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature

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

Yoshikawa Keisuke K Kuwahara Motoi M Saigoh Kazumasa K Ishiura Hiroyuki H Yamagishi Yuko Y Hamano Yuta Y Samukawa Makoto M Suzuki Hidekazu H Hirano Makito M Mitsui Yoshiyuki Y Tsuji Shoji S Kusunoki Susumu S

eNeurologicalSci 20181122

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 the case of a 37-year-old female who presented with gait disturbance complicat ...[more]

PMID: 30582020

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