Article
Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD.
Annals of neurology - 1 Nov 2005
Münch Christoph, Rosenbohm Angela, Sperfeld Anne-Dorte, Uttner Ingo, Reske Sven, Krause Bernd J, Sedlmeier Reinhard, Meyer Thomas, Hanemann Clemens O, Stumm Gabriele, Ludolph Albert C
Abstract excerpt
A heterozygous R1101K mutation of the p150 subunit of dynactin (DCTN1) is reported in a family with amyotrophic lateral sclerosis (ALS) and co-occurrence of frontotemporal dementia (FTD). Two members of our kindred were affected with motor neuron disease and two with dementia in an autosomal dominant pattern of inheritance. We excluded the involvement of the ALS and FTD-linked genes for copper/zinc superoxide...
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