Autosomal Recessive Parkinson’s Disease with Early-Onset in a Turkish Family

  • Zeynep Özözen Ayas Yunus Emre Hospital
  • Dilcan Kotan Sakarya University Faculty of Medicine
  • Aslı Aksoy Gündoğdu Namık Kemal University, Faculty of Medicine
Keywords: Parkinson disease, autosomal recessive, early-onset

Abstract

Parkinson disease is a progressive, neurodegenerative disease with an increasing incidence of age. It is thought that genetic factors in etiology may be the underlying cause together with environmental factors. Sporadic cases are seen in 85 %, familial forms in 10-15 %, and single gene inheritance in 5 %. In this article, we present a patient with early-onset Parkinson disease who had family history but negative genetic analyses. Genetic mutations of autosomal recessive early-onset parkinsonism are more frequently evaluated in clinical practice and are directed to be analyzed more frequently in a selected group of patients.

Author Biographies

Zeynep Özözen Ayas, Yunus Emre Hospital
Department of Neurology
Dilcan Kotan, Sakarya University Faculty of Medicine
Department of Neurology
Aslı Aksoy Gündoğdu, Namık Kemal University, Faculty of Medicine
Department of Neurology

References

Bonifati V, Rizzu P, van Baren MJ, Schaap O, Breedveld GJ, Krieger E, et al. Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 2003;299:256-9.

Valente EM, Abou-Sleiman PM, Caputo V, Muqit MM, Harvey K, Gispert S, et al. Hereditary early-onset Parkinson's disease caused by mutations in PI K1. Science 2004;304:1158-60.

Hedrich K, Djarmati A, Schäfer N, Hering R, Wellenbrock C, Weiss PH, et al. DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease. Neurology 2004;62:389-94.

Julienne H, Buhl E, Leslie DS, Hodge JJL. Drosophila PINK1 and parkin loss-of-function mutants display a range of non-motor Parkinson's disease phenotypes. Neurobiol Dis. 2017;104:15-23.

Ibáñez P, De Michele G, Bonifati V, Lohmann E, Thobois S, Pollak P, et al; French Parkinson's Disease Genetics Study Group. Screening for DJ-1 mutations in early onset autosomal recessive parkinsonism. Neurology 2003;61:1429-31.

Yang X, Xu Y. Mutations in the ATP13A2 gene and Parkinsonism: apreliminary review. Biomed Res Int. 2014;371256.

Xie W, Wan Wan O, Chung KKK. New insights into the role of mitochondrial dysfunction and protein aggregation in Parkinson’s disease. Biochimica et Biophysica Acta, 2010; 1802:935

Published
2019-03-25