Coexistence of CMT-2D + distal SMA-V phenotypes in Italian family with a GARS g

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Neurology. 2006 Mar 14;66(5):752-4. Links

Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family

with a GARS gene mutation.

Del Bo R, Locatelli F, Corti S, Scarlato M, Ghezzi S, Prelle A,

Fagiolari G, Moggio M, Carpo M, Bresolin N, Comi GP.

Dino Ferrari Centre, Department of Neurological Sciences, University of

Milan, IRCCS Ospedale Maggiore Policlinico, Mangiagalli and Regina

Elena Foundation, Milan, Italy.

An Italian multigenerational family with four members affected by an

axonal Charcot-Marie-Tooth type 2D (CMT-2D) or distal spinal muscular

atrophy (dSMA) phenotype with upper limb predominance, variable age at

onset, degree of disability, and autosomal dominant inheritance is

reported. A novel heterozygous missense GARS gene mutation (D500N) was

identified.