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Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD
Author(s) -
Münch Christoph,
Rosenbohm Angela,
Sperfeld AnneDorte,
Uttner Ingo,
Reske Sven,
Krause Bernd J.,
Sedlmeier Reinhard,
Meyer Thomas,
Hanemann Clemens O.,
Stumm Gabriele,
Ludolph Albert C.
Publication year - 2005
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20631
Subject(s) - amyotrophic lateral sclerosis , frontotemporal dementia , sod1 , mutation , dynactin , genetics , gene , biology , dementia , disease , medicine , protein subunit , pathology
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