Distal Hereditary Motor Neuronopathy (Vocal cord involvement) (HMND14; HMN 7B)

Overview

● de novo Epidemiology: > 10 families Genetics Mutations: Missense most common; Gly59Ser (In CAP�Gly domain); R1150C DCTN1 allelic disorders Perry disease Mutations: CAP�Gly domain Parkinsonism, Depression, Weight loss, Hypoventilation, TDP-43 immunostaining of brain May be associated with ALS susceptibility: C-terminal, Non-CAP�Gly domain mutations Progressive supranuclear palsy (K56R) Early onset motor disease (c.626dupC) Dynactin protein Largest subunit of 10 million dalton dynactin complex Binds to Microtubules Dynein: Cytoplasmic Also see: Rab proteins, CMT 2B Functions Associated with ax

OMIM Entries

External Resources