Parkinsonism and Anderson Fabry's disease: a case report.
We describe and present a videotape of a 57-year-old woman admitted to our Neurological Clinic at 46 years of age due to extrapyramidal manifestations suggesting Parkinson's disease (PD) and with a brain magnetic resonance imaging scan showing multi-infarctual leukoencephalopathy. Various investigations led to the diagnosis of Anderson Fabry's disease (AFD). We discuss the possibility of correlation between the patient's parkinsonism and AFD.
Buechner
Susanne
S
Department of Neurological and Psychiatric Sciences, University of Florence, Florence, Italy. subue@inwind.it
De Cristofaro
Maria Teresa Rosaria
MT
Ramat
Silvia
S
Borsini
Walter
W
D001921:Brain / Q000473:pathology; D002544:Cerebral Infarction / Q000175:diagnosis / Q000235:genetics; D041321:Chromosomes, Human, X; D015161:Dementia, Multi-Infarct / Q000175:diagnosis / Q000235:genetics; D003937:Diagnosis, Differential; D000795:Fabry Disease / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009460:Neurologic Examination; D010300:Parkinson Disease / Q000175:diagnosis / Q000235:genetics; D020734:Parkinsonian Disorders / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D017354:Point Mutation; D013223:Statistics as Topic; D014743:Videotape Recording; D000519:alpha-Galactosidase / Q000235:genetics
D000519:alpha-Galactosidase