title: Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD.
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.
authors.affiliation: Department of Neurology, Jewish Hospital, Berlin.
authors.forename: Christoph
authors.initials: C
authors.lastname: Münch
authors.forename: Angela
authors.initials: A
authors.lastname: Rosenbohm
authors.forename: Anne-Dorte
authors.initials: AD
authors.lastname: Sperfeld
authors.forename: Ingo
authors.initials: I
authors.lastname: Uttner
authors.forename: Sven
authors.initials: S
authors.lastname: Reske
authors.forename: Bernd J
authors.initials: BJ
authors.lastname: Krause
authors.forename: Reinhard
authors.initials: R
authors.lastname: Sedlmeier
authors.forename: Thomas
authors.initials: T
authors.lastname: Meyer
authors.forename: Clemens O
authors.initials: CO
authors.lastname: Hanemann
authors.forename: Gabriele
authors.initials: G
authors.lastname: Stumm
authors.forename: Albert C
authors.initials: AC
authors.lastname: Ludolph
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000150:complications / Q000235:genetics* / Q000473:pathology; D001120:Arginine / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D003704:Dementia / Q000150:complications / Q000235:genetics* / Q000473:pathology; D000072159:Dynactin Complex; D005192:Family Health; D005260:Female; D006801:Humans; D008239:Lysine / Q000235:genetics*; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation
chemical_list: C000606360:DCTN1 protein, human; D000072159:Dynactin Complex; D008869:Microtubule-Associated Proteins; D001120:Arginine; D008239:Lysine