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Parkinson's disease 2, juvenile, autosomal recessive
Pathology:
- loss of dopaminergic neurons in the substantia nigra, similar to that seen in Parkinson disease
- Lewy bodies are absent
- accumulation of unfolded GPR37 may lead to dopaminergic neuronal death
Genetics:
- autosomal recessive
- associated with mutation for parkin gene
Clinical manifestations:
- symptomatically different in several aspects from idiopathic Parkinson's disease
- classic symptoms including bradykinesia, rigidity & tremor are present
- additional clinical features include
a) early DOPA-induced dyskinesia
b) diurnal fluctuation of symptoms
c) sleep benefit
d) dystonia
e) hyper-reflexia
f) age of onset
1] onset usually before age 40
2] mean age at onset is 23.2 years
Database Correlations
OMIM correlations
MORBIDMAP 602544
Entrez Gene 5071
References
OMIM :accession 600116