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GENATLAS PHENOTYPE

last update : 17-03-2016

Symbol	PARK23
Location	15q22.2
Name	Parkinson disease 23, early-onset
Corresponding gene	VPS13C
Main clinical features	early disease onset (25 to <46 years) and typical parkinsonism (akineto-rigid syndrome, rest tremor, good levodopa response); disease progression, however, was particularly severe, with early cognitive decline, loss of response to treatment, axial symptoms, and dysautonomia Brain MRI was normal early in the disease, and then bilateral atrophy was observed in the frontal, parietal, and temporal lobes
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Remark(s)

loss of VPS13C function affects mitochondrial morphology, transmembrane potential, and respiration (PMID: 26942284))