FMR1, FMRP translational regulator 1, 2332

N. diseases: 346; N. variants: 10
Disease: Atypical Parkinsonism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4302185
Disease: Atypical Parkinsonism
Atypical Parkinsonism 		0.020 Biomarker disease BEFREE Here, we describe a family affected by FMR1-related disorders in which the female index case has developed a rapidly progressive and disabling syndrome of atypical parkinsonism. 27230899 2016
CUI: C4302185
Disease: Atypical Parkinsonism
Atypical Parkinsonism 		0.020 GeneticVariation disease BEFREE Among 367 subjects, the authors analyzed 167 patients with essential tremor, sporadic progressive cerebellar ataxia, multiple-system atrophy, and atypical parkinsonism and 200 healthy control subjects for FMR1 premutation alleles. 15277639 2004