UBQLN2 in familial amyotrophic lateral sclerosis in The Netherlands.
Recently it was discovered that mutations in the UBQLN2 gene were a cause of an X-linked dominant type of familial amyotrophic lateral sclerosis (ALS). We investigated the frequency of mutations in this gene in a cohort of 92 families with ALS in the Netherlands. Eight families were excluded because of male-to-male transmission. In the remaining 84 familial ALS cases no mutations were discovered in UBQLN2. Hence, UBQLN2 was not found to be a cause of familial ALS in the Netherlands.
Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, The Netherlands.
Perry T C
PT
van Doormaal
Wouter
W
van Rheenen
Marka
M
van Blitterswijk
Raymond D
RD
Schellevis
Helenius J
HJ
Schelhaas
Marianne
M
de Visser
Anneke J
AJ
van der Kooi
Jan H
JH
Veldink
Leonard H
LH
van den Berg
D048868:Adaptor Proteins, Signal Transducing; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D000071183:Autophagy-Related Proteins; D018797:Cell Cycle Proteins / Q000235:genetics*; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D009426:Netherlands; D014452:Ubiquitins / Q000235:genetics*
D048868:Adaptor Proteins, Signal Transducing; D000071183:Autophagy-Related Proteins; D018797:Cell Cycle Proteins; C405662:UBQLN2 protein, human; D014452:Ubiquitins