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Article

Early Onset Parkinson's disease due to DJ1 mutations: An Indian study.

Parkinsonism & related disorders - 1 Nov 2016

Abbas Masoom M, Govindappa Shyla T, Sudhaman Sumedha, Thelma B K, Juyal Ramesh C, Behari Madhuri, Muthane Uday B

Abstract excerpt

INTRODUCTION: Early Onset Parkinson's Disease (EOPD) is genetically heterogeneous. PARK2 mutations are the commonest cause of autosomal recessive EOPD followed by PINK1.DJ1 mutations is rare and there is scarce literature on its phenotype and long term outcome. OBJECTIVES: We undertook a retrospective study to determine the prevalence of DJ1 mutation(s) in an Indian population and describe the clinical features...

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Identifiers

PMID: 27592010
DOI: 10.1016/j.parkreldis.2016.04.024

Genes

PINK1

Variants

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