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Progressive supranuclear palsy phenotype secondary to CADASIL.

J A Van Gerpen1, J E Ahlskog, G W Petty

  • 1Department of Neurology, Mayo Clinic Foundation, 200 First Street SW, Rochester, MN 55905, USA. vangerpen.jay@mayo.edu

Parkinsonism & Related Disorders
|July 11, 2003
PubMed
Summary

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) can present as progressive supranuclear palsy. This case highlights parkinsonism as a key manifestation of CADASIL.

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Area of Science:

  • Neurology
  • Genetics
  • Neurodegenerative Diseases

Background:

  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare genetic disorder.
  • It is characterized by progressive neurological deficits, including stroke and cognitive impairment.

Observation:

  • A 60-year-old woman presented with a multi-year history of stepwise, progressive parkinsonism.
  • Her symptoms mimicked a progressive supranuclear palsy phenotype.

Findings:

  • The patient's parkinsonism was diagnosed as secondary to CADASIL.
  • This case demonstrates that CADASIL can manifest with a progressive supranuclear palsy phenotype.

Implications:

  • The recognized clinical spectrum of CADASIL is expanding.

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  • Neurologists should consider CADASIL in patients presenting with parkinsonism, especially those with a progressive supranuclear palsy phenotype.