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Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD

✍ Scribed by Christoph Münch; Angela Rosenbohm; Anne-Dorte Sperfeld; Ingo Uttner; Sven Reske; Bernd J. Krause; Reinhard Sedlmeier; Thomas Meyer; Clemens O. Hanemann; Gabriele Stumm; Albert C. Ludolph

Publisher: John Wiley and Sons
Year: 2005
Tongue: English
Weight: 561 KB
Volume: 58
Category: Article
ISSN: 0364-5134
DOI: 10.1002/ana.20631

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✦ Synopsis

Abstract

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 dismutase (SOD1) and tau. The R1101K sequence alteration of the DCTN1 gene may predispose subjects to ALS and FTD. Ann Neurol 2005;58:777–780

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