Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 21-08-2015
Symbol PARK1
Location 4q22.1
Name Parkinson disease, 1
Other name(s) Lewy body parkinsonism
Corresponding gene SNCA
Other symbol(s) PRKSD1, D4S3159, PARK4
Main clinical features
  • results from the slow, progressive loss of dopaminergic neurons in the substantia nigra (PMID: 22988096))
    • Genetic determination autosomal dominant
    Prevalence early onset PD autosomal dominant and sporadic
    Related entries . including familial and sporadic dementia with Lewy bodies and multiple system atrophy (Omim: 127750) . including Parkinson disease with autonomic dysfunction and ataxia . infantile neurodegeneration with iron accumulation in the brain
    Function/system disorder neurology
    Type disease
    Gene product
    Name alpha synuclein (SNCA), major component of Lewy bodies and Lewy neurites
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     A53T, with mitochondrial dysfunction and ER stress, contributing to neuronal cell death
    missense     A53T, A30P, and E46K, extremely rare
    amplification     duplication and triplication of the 4q21 locus including SNCA,suggesting a dosage effect (PARK4), in ~2 percent of familial PD cases
    other     susceptibility variants
    Remark(s)