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

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

doi:10.1002/ana.20631

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

Ann Neurol. 2005 Nov;58(5):777-80. doi: 10.1002/ana.20631.

Authors

Christoph Münch¹, Angela Rosenbohm, Anne-Dorte Sperfeld, Ingo Uttner, Sven Reske, Bernd J Krause, Reinhard Sedlmeier, Thomas Meyer, Clemens O Hanemann, Gabriele Stumm, Albert C Ludolph

Affiliation

¹ Department of Neurology, Jewish Hospital, Berlin.

PMID: 16240349
DOI: 10.1002/ana.20631

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.

Publication types

Comparative Study
Research Support, Non-U.S. Gov't

MeSH terms

Amyotrophic Lateral Sclerosis / complications
Amyotrophic Lateral Sclerosis / genetics*
Amyotrophic Lateral Sclerosis / pathology
Arginine / genetics*
DNA Mutational Analysis / methods
Dementia / complications
Dementia / genetics*
Dementia / pathology
Dynactin Complex
Family Health
Female
Humans
Lysine / genetics*
Magnetic Resonance Imaging / methods
Male
Microtubule-Associated Proteins / genetics*
Middle Aged
Mutation*

Substances

DCTN1 protein, human
Dynactin Complex
Microtubule-Associated Proteins
Arginine
Lysine