(mentions CMT) Recent advances in the genetics of distal hereditary motor neuro

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Clin Genet. 2011 Jan;79(1):23-34.

Recent advances in the genetics of distal hereditary motor neuropathy give

insight to a disease mechanism involving copper homeostasis that may extend to

other motor neuron disorders.

Merner N, Dion P, Rouleau G.

Centre of Excellence in Neuromics of Université de Montréal, CHUM Research

Center, Montreal, Quebec, Canada H2L 2W5.

Abstract

Merner ND, Dion PA, Rouleau GA. Recent advances in the genetics of distal

hereditary motor neuropathy give insight to a disease mechanism involving copper

homeostasis that may extend to other motor neuron disorders. Distal hereditary

motor neuropathy (dHMN) is a sub-group of Charcot-Marie-Tooth disease (CMT), the

most common peripheral neuropathy, that affects only motor neurons. T

he recent observation of ATP7A mutations in dHMN provides insight for a common

disease mechanism that may involve copper homeostasis. Functionally, diverse

proteins were previously shown to underlie dHMN and a convergent link is

destined to unfold for some of these. We propose connections between copper and

known dHMN genes that overlap also with the causative genes of other motor

neuron disorders (MNDs).