Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD.
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.
Münch
Christoph
C
Department of Neurology, Jewish Hospital, Berlin.
Rosenbohm
Angela
A
Sperfeld
Anne-Dorte
AD
Uttner
Ingo
I
Reske
Sven
S
Krause
Bernd J
BJ
Sedlmeier
Reinhard
R
Meyer
Thomas
T
Hanemann
Clemens O
CO
Stumm
Gabriele
G
Ludolph
Albert C
AC
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
C000606360:DCTN1 protein, human; D000072159:Dynactin Complex; D008869:Microtubule-Associated Proteins; D001120:Arginine; D008239:Lysine