Point mutations of the p150 subunit of <i>dynactin</i> ( <i>DCTN1</i> ) gene in ALS
Christoph Münch(University Hospital Ulm), Reinhard Sedlmeier(University Hospital Ulm), Thomas Meyer(University Hospital Ulm), V. Homberg(University Hospital Ulm), A.D Sperfeld(University Hospital Ulm), A. Kurt(University Hospital Ulm), Johannes Prudlo(University Hospital Ulm), Gisela Peraus(University Hospital Ulm), C. Oliver Hanemann(University Hospital Ulm), Gabriele Stumm(University Hospital Ulm), Albert C. Ludolph(University Hospital Ulm)
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Abstract
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.
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