Article
Genotype-phenotype correlations of KIF5A stalk domain variants.
Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Nov 2021
de Boer Eva M J, van Rheenen Wouter, Goedee H Stephan, Kamsteeg Erik-Jan, Brilstra Eva H, Veldink Jan H, van Den Berg Leonard H, van Es Michael A
Abstract excerpt
The kinesin family member 5A (KIF5A) motor domain variants are typically associated with hereditary spastic paraplegia (HSP) or Charcot-Marie-Tooth 2 (CMT2), while KIF5A tail variants predispose to amyotrophic lateral sclerosis (ALS) and neonatal intractable myoclonus. Variants within the stalk domain of KIF5A are relatively rare. We describe a family of three patients with a complex HSP phenotype and a likely...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.