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Definition

An early-onset form of Parkinson disease, a neurodegenerative disorder characterized by parkinsonian signs such as rigidity, resting tremor and bradykinesia. A subset of patients manifest additional symptoms including hyperreflexia, autonomic instability, dementia and psychiatric disturbances. Symptoms show diurnal fluctuation and can improve after sleep. PARK6 pathogenesis involves respiratory complex I deficiency causing mitochondrial depolarization and dysfunction. Inheritance is autosomal recessive.

Acronym

PARK6

Synonyms

Autosomal recessive early-onset Parkinson disease type 6
Parkinson disease 6 early-onset
Parkinson disease 6 late-onset susceptibility to
Parkinson disease autosomal recessive early-onset digenic PINK1/DJ1
Parkinsonism young adult onset

Keywords

Neurodegeneration
Parkinson disease
Parkinsonism
Primary mitochondrial disease

 
Disclaimer

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