Autopsy-confirmed, co-existent CADASIL and multiple system atrophy

Claire M Rice, Declan McGuone, Kathreena M Kurian, Seth Love, Shelley A Renowden, Nicola J Giffin

Research output: Contribution to journalArticle (Academic Journal)peer-review

3 Citations (Scopus)

Abstract

Parkinsonism has been described as the presenting symptom of cerebral autosomal dominant arteriopathy with sub-cortical infarcts and leucoencephalopathy (CADASIL) rarely and without brain histology. We report autopsy findings of a patient who presented with parkinsonism and was subsequently shown to have CADASIL. Brain histology is consistent with both multiple system atrophy (MSA) and CADASIL highlighting the danger of assuming that an unusual presentation of a syndrome necessarily represents phenotypic variation. In addition, we report a novel Notch homolog 3 (NOTCH3) mutation.
Translated title of the contributionAutopsy-confirmed, co-existent CADASIL and multiple system atrophy
Original languageEnglish
Pages (from-to)390 - 392
Number of pages3
JournalParkinsonism & Related Disorders
Volume17
Issue number5
DOIs
Publication statusPublished - Jun 2011

Keywords

  • Autopsy
  • Multiple System Atrophy
  • CADASIL
  • Humans
  • Middle Aged
  • Female

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