Journal
PARKINSONISM & RELATED DISORDERS
Volume 64, Issue -, Pages 308-311Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.parkreldis.2019.03.013
Keywords
PARK7; DJ-1; Early onset Parkinson's disease; Clinical features; Pathology
Categories
Funding
- National Health and Medical Research Council Australia [1144724]
- NHMRC [1054618, 1102971]
- Victorian State Government
- Australian National Health and Medical Research Council Independent Research Institute Infrastructure Support Scheme (IRIISS)
- National Health and Medical Research Council of Australia [1102971, 1144724] Funding Source: NHMRC
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Background: Bi-allelic mutations in PARK? 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 PARK? [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.
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