Incidence of mutations in the PARK2, PINK1, PARK7 genes in Polish early-onset Parkinson disease patients | Zendy

Dariusz Koziorowski | Zendy; Dorota HoffmanZacharska | Zendy; Jarosław Sławek | Zendy; Zygmunt Jamrozik | Zendy; Piotr Janik | Zendy; Anna PotulskaChromik | Zendy; Anna Roszmann | Zendy; Renata Tataj | Zendy; Jerzy Bal | Zendy; Andrzej Friedman | Zendy

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Incidence of mutations in the PARK2, PINK1, PARK7 genes in Polish early-onset Parkinson disease patients

Author(s) -

Dariusz Koziorowski,

Dorota HoffmanZacharska,

Jarosław Sławek,

Zygmunt Jamrozik,

Piotr Janik,

Anna PotulskaChromik,

Anna Roszmann,

Renata Tataj,

Jerzy Bal,

Andrzej Friedman

Publication year - 2013

Publication title -

neurologia i neurochirurgia polska

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.484

H-Index - 26

eISSN - 1897-4260

pISSN - 0028-3843

DOI - 10.5114/ninp.2013.36756

Subject(s) - medicine , incidence (geometry) , disease , parkinson's disease , gene , pink1 , pediatrics , genetics , parkin , biology , physics , optics

Parkinson disease (PD) is a complex disease, comprising genetic and environmental factors. Despite the vast majority of sporadic cases, three genes, i.e. PARK2, PINK1 and PARK7 (DJ-1), have been identified as responsible for the autosomal recessive form of early-onset Parkinson disease (EO-PD). Identified changes of these genes are homozygous or compound heterozygous mutations. The frequency of PARK2, PINK1 and PARK7 mutations is still under debate, as is the significance and pathogenicity of the single heterozygous mutations/variants, which are also detected among PD patients. The aim of the study was to analyze the incidence of autosomal recessive genes PARK2, PINK1, PARK7 mutations in Polish EO-PD patients.

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