REM behavior disorder associated with familial amyotrophic lateral sclerosis.
The association between RBD and synucleinopathies is well known. However, the association between RBD and other neuromuscular diseases has not been as well described. Our case study describes two siblings with familial ALS, confirmed by the identification of the L84F mutation in the SOD1 gene, and RDB. We hope this case study will promote future studies on the prevalence of this association and will stimulate research in identifying the underlying pathogenic mechanism.
Weill Medical College of Cornell University, Hospital for Special Surgery, New York, NY 10065, USA. mae2001@med.cornell.edu
Matthew R
MR
Ebben
Mona
M
Shahbazi
Dale J
DJ
Lange
Ana C
AC
Krieger
D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D020187:REM Sleep Behavior Disorder / Q000209:etiology / Q000235:genetics*; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1