Familial early onset Parkinson's disease caused by a homozygous frameshift variant in PARK7: Clinical features and literature update
- Author(s)
- Stephenson, SE; Djaldetti, R; Rafehi, H; Wilson, GR; Gillies, G; Bahlo, M; Lockhart, PJ;
- Journal Title
- Parkinsonism & Related Disorders
- Publication Type
- Journal Article
- Abstract
- BACKGROUND: Bi-allelic mutations in PARK7 are a rare cause of autosomal recessive early onset Parkinson's disease (EO-PD). To date, 30 individuals harbouring 20 unique causative variants have been described. Understanding of the spectrum of clinical features and natural history of PARK7 mediated EO-PD remain limited. METHODS: We studied a family with three offspring, two of whom were affected with EO-PD. Family members underwent detailed clinical examination and DNA samples from both affected individuals and parents were analysed by exome sequencing. RESULTS: Two brothers of Iranian descent presented at age 29 years with Parkinsonism associated with high-pitched voice and hypomimia. The brothers were followed over a six and fifteen-year period and displayed typical levodopa responsive slowly-progressive Parkinsonism. A novel homozygous frameshift mutation in PARK7 [NM_007262.4:c.90dupG, p(Ile31Aspfs*2)] was identified. CONCLUSIONS: Here we report the clinical presentation and progression of EO-PD in brothers with a novel pathogenic PARK7 variant. We expand the clinical phenotype and provide an update of clinical and pathological features of the disorder.
- Publisher
- Elsevier
- Research Division(s)
- Population Health And Immunity
- PubMed ID
- 30928208
- Publisher's Version
- https://doi.org/10.1016/j.parkreldis.2019.03.013
- NHMRC Grants
- NHMRC/1054618, NHMRC/1102971,
- Terms of Use/Rights Notice
- Refer to copyright notice on published article.
Creation Date: 2019-04-11 12:23:48
Last Modified: 2019-10-11 03:20:32