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Article

A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot Deformity.

Cerebellum (London, England) - 1 Dec 2023

Hama Yuka, Date Hidetoshi, Fujimoto Akiko, Matsui Ayano, Ishiura Hiroyuki, Mitsui Jun, Yamamoto Toshiyuki, Tsuji Shoji, Mizusawa Hidehiro, Takahashi Yuji

Abstract excerpt

Early-onset ataxias are often difficult to diagnose due to the genetic and phenotypic heterogeneity of patients. Whole exome sequencing (WES) is a powerful method for determining causative mutations of early-onset ataxias. We report a case in which a novel de novo KIF1A mutation was identified in a patient with ataxia, intellectual disability and mild foot deformity.A patient presented with sporadic forms of...

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Identifiers

PMID: 36227410
DOI: 10.1007/s12311-022-01489-y
PMCID: PMC10657280

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