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
  • early DOPA-induced dyskinesia
  • diurnal fluctuation of symptoms
  • sleep benefit
  • dystonia
  • hyper-reflexia
  • age of onset
    • onset usually before age 40
    • mean age at onset is 23.2 years

More general terms

• familial Parkinson's disease

Additional terms

• E3 ubiquitin-protein ligase parkin; EC=6.3.2.-; parkinson juvenile disease protein 2; parkinson disease protein 2 (PARK2 PRKN)

Database

• OMIM: https://mirror.omim.org/entry/600116
• OMIM: https://mirror.omim.org/entry/602544
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=5071