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NEUROLOGY 2006;67:1710-1712
© 2006 American Academy of Neurology
Brief Communications

Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene

P. A. James, MD, M. Z. Cader, DPhil, F. Muntoni, FMedSci, A. -M. Childs, MD, Y. J. Crow, PhD and K. Talbot, DPhil

From the Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK (P.A.J., M.Z.C., K.T.); Dubowitz Neuromuscular Centre, Imperial College London, London, UK (F.M.); Department of Pediatric Neurology, Leeds General Infirmary, Leeds, UK (A.-M.C.); and Yorkshire Regional Genetic Service, St James’s University Hospital, Leeds, UK (Y.J.C.).

Address correspondence and reprint requests to Dr. Kevin Talbot, Henry Wellcome Building for Gene Function, Department of Physiology, Anatomy and Genetics, University of Oxford, South Parks Road, Oxford OX1 1LF, UK; e-mail: kevin.talbot{at}clneuro.ox.ac.uk

We screened 100 patients with inherited and sporadic lower motor neuron degeneration and identified three novel missense mutations in the glycyl-tRNA synthetase (GARS) gene. One mutation was in the anticodon binding domain and associated with onset in early childhood and predominant involvement of the lower limbs, thus extending the phenotype associated with GARS mutations.

Supported by the Medical Research Council (K.T.), Nuffield Medical Trust (P.A.J.), and The Muscular Dystrophy Campaign (F.M.).

Disclosure: The authors report no conflicts of interest.

Received April 26, 2006. Accepted in final form July 24, 2006.




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