Work

Identical twins with Leucine rich repeat kinase type 2 mutations discordant for Parkinson's disease

Year: 2012

Type: article

Abstract: Analysis of concordancy rates in monozygotic and dizy-gotic twins with Parkinson’s disease (PD) has been an impor-tant subject for research into the disorder1 and discordancy between twins has traditionally been interpreted as evidence against a genetic etiology of disease. Discordancy in late-onset diseases such as PD is complicated by the possibility that the disease onset may vary considerably between twins, and cases with up to 20 years of discordance have been reported.2 Leucine-rich repeat-kinase type 2 (LRRK2) muta-tions are the most common Mendelian cause of PD,3,4 with the G2109S mutation occurring in 1 % to 2 % of idiopathic cases in the UK.5 Here we report the identification of a pair of identical twins with this mutation who are discordant by more than 10 years. The twins, of English descent, are 70þ years old and were

Source: Movement Disorders

DOI: 10.1002/mds.24924

Authors: Georgia Xiromerisiou, Henry Houlden, Anna Sailer, Laura Silveira‐Moriyama, John Hardy, Andrew J. Lees

Institutions: UCL Queen Square Institute of Neurology, University College London, National Hospital for Neurology and Neurosurgery

Language: English

Topic: Parkinson's Disease Mechanisms and Treatments

Subfield: Clinical Neurology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: Wellcome Trust, Parkinson's UK, University of Tokushima, Medical Research Council