Journal article

Familial early onset Parkinson's disease caused by a homozygous frameshift variant in PARK7: Clinical features and literature update

Sarah EM Stephenson, Ruth Djaldetti, Haloom Rafehi, Gabrielle R Wilson, Greta Gillies, Melanie Bahlo, Paul J Lockhart

Parkinsonism & Related Disorders | ELSEVIER SCI LTD | Published : 2019


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 brot..

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Awarded by National Health and Medical Research Council Australia

Awarded by NHMRC

Funding Acknowledgements

We thank the family for participating in this study. This work was funded in part by National Health and Medical Research Council Australia Project Grant 1144724 to P.J.L and NHMRC program grant funding and Research Fellowship funding to M.B. (1054618 and 1102971 respectively). In addition, funding was received from the Victorian State Government Operational Infrastructure Support and Australian National Health and Medical Research Council Independent Research Institute Infrastructure Support Scheme (IRIISS).