Parkinson Disease, Familial, Type 1 [Supplementary Concept]
A severe hereditary autosomal dominant form of Parkinson Disease with onset in mid to late adulthood. It is characterized by the presence of LEWY BODIES in the SUBSTANTIA NIGRA and LOCUS CERULEUS, cell loss and GLIOSIS in the brainstem, and tissue vacuolization in the medial temporal regions. Mutations in the SNCA gene have been identified. OMIM: 168601
Date introduced: August 24, 2012
MeSH Unique ID: C566823
Heading Mapped to:
Entry Terms:
- Parkinson Disease, Autosomal Dominant
- Lewy Body Parkinsonism
- Atypical Parkinson Disease