NEUROLOGY 2004;63:724-726
© 2004 American Academy of Neurology
Brief Communications
Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS
C. Münch, MD,
R. Sedlmeier, PhD,
T. Meyer, MD,
V. Homberg, MD,
A. D. Sperfeld, MD,
A. Kurt, MD,
J. Prudlo, MD,
G. Peraus, PhD,
C. O. Hanemann, MD,
G. Stumm, MD and
A. C. Ludolph, MD
From the Department of Neurology (Drs. Münch, Homberg, Sperfeld, Kurt, Hanemann, and Ludolph), University of Ulm, Germany; Ingenium Pharmaceuticals AG (Drs. Sedlmeier, Peraus, and Stumm), Munich, Germany; Department of Neurology (Dr. Meyer), Charité Hospital, Humboldt University, Berlin, Germany; and Department of Neurology (Dr. Prudlo), University Hospital, Homburg, Germany.
Address correspondence and reprint requests to Dr. Christoph Münch, Department of Neurology, University of Ulm, Albert-Einstein-Allee 11, 89081 Ulm, Germany; e-mail: christoph.muench{at}medizin.uni-ulm.de
The authors report mutation screening of the p150 subunit of dynactin (DCTN1) and the cytoplasmic dynein heavy chain (DNCHC1) genes in 250 patients with ALS and 150 unrelated control subjects. Heterozygous missense mutations of the DCTN1 gene were detected in one apparently sporadic case of ALS (T1249I), one individual with familial ALS (M571T), two patients with familial ALS, and two unaffected relatives in the same kindred (R785W). The allelic variants of the DCTN1 gene may represent a previously unknown genomic risk factor for ALS.
Received February 9, 2004.
Accepted in final form March 31, 2004.
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