Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS
C Munch, R Sedlmeier, T Meyer, V Homberg… - Neurology, 2004 - AAN Enterprises
C Munch, R Sedlmeier, T Meyer, V Homberg, AD Sperfeld, A Kurt, J Prudlo, G Peraus…
Neurology, 2004•AAN EnterprisesThe 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 …
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 …
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.
American Academy of Neurology