A multiplex pedigree with pathologically confirmed multiple system atrophy and Parkinson's disease with dementia.

ABSTRACT: Multiple system atrophy is considered a sporadic disease, but neuropathologically confirmed cases with a family history of parkinsonism have been occasionally described. Here we report a North-Bavarian (colloquially, Lion's tail region) six-generation pedigree, including neuropathologically confirmed multiple system atrophy and Parkinson's disease with dementia. Between 2012 and 2020, we examined all living and consenting family members of age and calculated the risk of prodromal Parkinson's disease in those without overt parkinsonism. The index case and one paternal cousin with Parkinson's disease with dementia died at follow-up and underwent neuropathological examination. Genetic analysis was performed in both and another family member with Parkinson's disease. The index case was a femal

SUBMITTER: Fanciulli A 

PROVIDER: S-EPMC9291376 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature