Parkinsonism and Anderson Fabry's disease: a case report

Mov Disord. 2006 Jan;21(1):103-7. doi: 10.1002/mds.20675.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Brain / pathology
  • Cerebral Infarction / diagnosis
  • Cerebral Infarction / genetics
  • Chromosomes, Human, X
  • Dementia, Multi-Infarct / diagnosis
  • Dementia, Multi-Infarct / genetics
  • Diagnosis, Differential
  • Fabry Disease / diagnosis*
  • Fabry Disease / genetics
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Middle Aged
  • Neurologic Examination
  • Parkinson Disease / diagnosis
  • Parkinson Disease / genetics
  • Parkinsonian Disorders / diagnosis*
  • Parkinsonian Disorders / genetics
  • Pedigree
  • Point Mutation
  • Statistics as Topic
  • Videotape Recording
  • alpha-Galactosidase / genetics

Substances

  • alpha-Galactosidase