title: 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.
abstract: 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. The 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).
authors.affiliation: Centre of Excellence in Neuromics of Université de Montréal, CHUM Research Center, Montreal, Quebec, Canada.
authors.forename: N D
authors.initials: ND
authors.lastname: Merner
authors.forename: P A
authors.initials: PA
authors.lastname: Dion
authors.forename: G A
authors.initials: GA
authors.lastname: Rouleau
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics / Q000378:metabolism; D000293:Adolescent; D000328:Adult; D027682:Cation Transport Proteins / Q000235:genetics / Q000378:metabolism; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism* / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D003300:Copper / Q000378:metabolism; D000073840:Copper-Transporting ATPases; D020022:Genetic Predisposition to Disease; D006706:Homeostasis; D006801:Humans; D016472:Motor Neuron Disease / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism* / Q000503:physiopathology; D009046:Motor Neurons / Q000378:metabolism* / Q000473:pathology; D009154:Mutation; D055815:Young Adult
chemical_list: D027682:Cation Transport Proteins; D003300:Copper; D000251:Adenosine Triphosphatases; C081184:ATP7A protein, human; D000073840:Copper-Transporting ATPases