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 contribution||Autopsy-confirmed, co-existent CADASIL and multiple system atrophy|
|Pages (from-to)||390 - 392|
|Number of pages||3|
|Journal||Parkinsonism & Related Disorders|
|Publication status||Published - Jun 2011|
- Multiple System Atrophy
- Middle Aged