New phenotype of DCTN1-related spectrum: early-onset dHMN plus congenital foot deformity.

Wo-Tu TianLi-Hua LiuHai-Yan ZhouChao ZhangFei-Xia ZhanZe-Yu ZhuSheng-Di ChenXing-Hua LuanZhaoxia Wang

Published in: Annals of clinical and translational neurology (2020)

We identify two novel DCTN1 mutations causing different phenotypes: (1) early-onset distal hereditary motor neuropathy plus congenital foot malformation and (2) amyotrophic lateral sclerosis, respectively. We provide the initial evidence that foot developmental deficiency probably arises from subcellular localizing abnormality of Dynactin 1, revealing DCTN1-related spectrum is still expanding.

Keyphrases

early onset
late onset
amyotrophic lateral sclerosis
minimally invasive
replacement therapy