PT  - JOURNAL ARTICLE
AU  - Münch, C.
AU  - Sedlmeier, R.
AU  - Meyer, T.
AU  - Homberg, V.
AU  - Sperfeld, A. D.
AU  - Kurt, A.
AU  - Prudlo, J.
AU  - Peraus, G.
AU  - Hanemann, C. O.
AU  - Stumm, G.
AU  - Ludolph, A. C.
TI  - Point mutations of the p150 subunit of <em>dynactin</em> (<em>DCTN1</em>) gene in ALS
AID  - 10.1212/01.WNL.0000134608.83927.B1
DP  - 2004 Aug 24
TA  - Neurology
PG  - 724--726
VI  - 63
IP  - 4
4099  - http://n.neurology.org/content/63/4/724.short
4100  - http://n.neurology.org/content/63/4/724.full
SO  - Neurology2004 Aug 24; 63
AB  - 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.