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autosomal dominant Parkinson disease 1

Disease Summary
Associated Targets (1)
Tchem

1


Uniprot Description A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia. The pathology of Parkinson disease involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. The disease is progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are known. The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors. However, some patients present with a positive family history for the disease. Familial forms of the disease usually begin at earlier ages and are associated with atypical clinical features.
Disease Ontology Description A Parkinson's disease that has_material_basis_in mutation in the alpha-synuclein (SNCA) gene on chromosome 4q22.1.
Mondo Term and Equivalent IDs
MONDO:0008200:  autosomal dominant Parkinson disease 1
MESH:C566823: