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Definition

A neurodegenerative disorder characterized by bradykinesia, rigidity, postural instability, tremor, and onset usually before 40. It differs from classic Parkinson disease by early DOPA-induced dyskinesia, diurnal fluctuation of the symptoms, sleep benefit, dystonia and hyper-reflexia. Dementia is absent. Pathologically, patients show loss of dopaminergic neurons in the substantia nigra, similar to that seen in Parkinson disease; however, Lewy bodies (intraneuronal accumulations of aggregated proteins) are absent.

Acronym

PARK2

Synonyms

Autosomal recessive early-onset Parkinson disease type 2
Autosomal recessive juvenile Parkinson disease
Chromosome 6-linked autosomal recessive parkinsonism
Early-onset parkinsonism with diurnal fluctuation
EPDF
Parkinsonism young adult onset
PDJ

Keywords

Neurodegeneration
Parkinson disease
Parkinsonism

 
Disclaimer

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Main funding by: National Institutes of Health

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