Parkinsonism in FMR1 premutation carriers may be indistinguishable from Parkinson disease.
Premutation carriers of repeat expansions in the fragile X mental retardation (FMR1) gene develop kinetic tremor and ataxia or the 'fragile X associated tremor/ataxia syndrome' (FXTAS). Affected FMR1 premutation carriers also have parkinsonism, but have not been reported to meet criteria for Parkinson disease. This case series illustrates that some patients who are FMR1 premutation carriers may appear by history and examination to have idiopathic Parkinson disease. Based on previous studies, it is likely that the genetic mutation and parkinsonism are associated. Although screening all PD patients is likely to be low yield, genetic testing of FMR1 in individuals with PD and a family history of fragile X syndrome, autism or developmental delay, or other related FMR1 phenotypes is warranted.
Hall
Deborah A
DA
Department of Neurology, University of Colorado at Denver and Health Sciences Center, Denver, CO, USA. deborah.hall@uchsc.edu
Howard
Katherine
K
Hagerman
Randi
R
Leehey
Maureen A
MA
D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010300:Parkinson Disease / Q000175:diagnosis / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree
D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human