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November 13, 2006

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

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P. A. James, MD, M. Z. Cader, DPhil, F. Muntoni, FMedSci, A. -M. Childs, MD, Y. J. Crow, PhD, and K. Talbot, DPhilAuthors Info & Affiliations
November 14, 2006 issue
67 (9) 1710-1712
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Abstract

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.

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Information & Authors

Information

Published In

Neurology®
Volume 67 • Number 9 • November 14, 2006
Pages: 1710-1712

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© 2006.

Publication History

Published online: November 13, 2006
Published in print: November 14, 2006

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Authors

Affiliations & Disclosures

P. A. James, MD
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.).
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M. Z. Cader, 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.).
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F. Muntoni, FMedSci
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.).
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A. -M. Childs, MD
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.).
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Y. J. Crow, PhD
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.).
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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.).
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Notes

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: [email protected]

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