Fragile X associated tremor/ataxia syndrome (FXTAS) with dementia in a female harbouring FMR1 premutation.
Karmon
Y
Y
Gadoth
N
N
D000483:Alleles; D001284:Atrophy; D001921:Brain / Q000473:pathology; D002524:Cerebellar Ataxia / Q000175:diagnosis / Q000235:genetics*; D002531:Cerebellum / Q000473:pathology; D002552:Cerebral Ventricles / Q000473:pathology; D004252:DNA Mutational Analysis; D003704:Dementia / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics*; D006580:Genetic Carrier Screening; D005838:Genotype; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D014057:Tomography, X-Ray Computed; D014202:Tremor / Q000175:diagnosis / Q000235:genetics*; D018911:Trinucleotide Repeats
D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human