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NEUROLOGY 2006;66:752-754
© 2006 American Academy of Neurology
Brief Communications

Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation

R. Del Bo, PhD, F. Locatelli, MD, S. Corti, MD, M. Scarlato, MD, S. Ghezzi, PhD, A. Prelle, MD, G. Fagiolari, PhD, M. Moggio, MD, M. Carpo, MD, N. Bresolin, MD and G. P. Comi, MD

From the Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena Foundation, Milan, Italy; and IRCCS Eugenio Medea (N.B.), La Nostra Famiglia, Bosisio Parini, Italy.

Address correspondence and reprint requests to Dr. Roberto Del Bo, Department of Neurological Sciences, University of Milan, Ospedale Maggiore Policlinico, Padiglione Ponti, Via F. Sforza, 35, 20122 Milan, Italy; e-mail: roberto.delbo{at}unimi.it

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.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the March 14 issue to find the title link for this article.

Supported by the Associazione Amici del Centro Dino Ferrari, University of Milan, the Telethon project GTF02008, the Eurobiobank project QLTR-2001-02769, and R.F. 2002 Criobanca Automatizzata di Materiale Biologico.

Disclosure: The authors report no conflicts of interest.

Received May 16, 2005. Accepted in final form November 29, 2005.




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