Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa

The LRRK2 gene is a key player in Parkinson's disease (PD), however prevalence and pathogenicity of LRRK2 variants remain to be investigated in ethnically diverse populations. Herein, we performed comprehensive sequencing of the LRRK2 gene in 92 Tunisian probands with familial PD. We then perfo...

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Vydáno v:	Movement disorders Ročník 25; číslo 13; s. 2052 - 2058
Hlavní autoři:	Jasinska-Myga, Barbara, Kachergus, Jennifer, Vilariño-Güell, Carles, Wider, Christian, Soto-Ortolaza, Alexandra I., Kefi, Mounir, Middleton, Lefkos T., Ishihara-Paul, Lianna, Gibson, Rachel A., Amouri, Rim, Yahmed, Samia Ben, Sassi, Samia Ben, Zouari, Mourad, Euch, Ghada El, Ross, Owen A., Hentati, Faycal, Farrer, Matthew J.
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	Hoboken Wiley Subscription Services, Inc., A Wiley Company 15.10.2010 Wiley
Témata:	Adult Africa, Northern - ethnology Aged Aged, 80 and over Arab-Berbers Biological and medical sciences Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Exons - genetics familial Parkinson's disease Family Health Female genetics Genotype Humans Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 LRRK2 Male Medical sciences Middle Aged Mutation, Missense - genetics Neurology Parkinson's disease Parkinsonian Disorders - genetics Polymorphism, Single Nucleotide - genetics Protein-Serine-Threonine Kinases - genetics Sequence Analysis, DNA sequencing North Africa Africa Human Nervous system diseases Parkinson's disease Nucleotide sequence familial Parkinson's disease LRRK2 Parkinson disease Cerebral disorder Arab-Berbers Familial disease genetics Central nervous system disease Degenerative disease Sequencing Extrapyramidal syndrome
ISSN:	0885-3185, 1531-8257, 1531-8257
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Shrnutí:	The LRRK2 gene is a key player in Parkinson's disease (PD), however prevalence and pathogenicity of LRRK2 variants remain to be investigated in ethnically diverse populations. Herein, we performed comprehensive sequencing of the LRRK2 gene in 92 Tunisian probands with familial PD. We then performed an association study using all identified variants in a series of 167 Lrrk2 p.G2019S‐negative patients with sporadic PD and 365 Lrrk2 p.G2019S‐negative healthy control subjects, all from the same Arab‐Berber ethnicity. We identified one novel coding substitution (p.M2408I) and 24 known coding changes. Only the Lrrk2 p.G2019S mutation segregated with disease within families and was found in 39% of familial probands. None of the variants displayed significant association with risk for sporadic PD, however a trend was observed for Lrrk2 p.Y2189C. The present study underscores the importance of the LRRK2 gene in the Tunisian PD population. © 2010 Movement Disorder Society
Bibliografie:	The Medical University of Silesia, Poland ark:/67375/WNG-1JPNLMX8-S The National Institutes of Health Exploratory/Developmental Research Grant Award - No. R21 NS64885 ArticleID:MDS23283 The Neurogenetic Core of the Mayo Clinic Morris K. Udall Center - No. NINDS P50 NS40256 The Morris K. Udall Center of Excellence for Parkinson's Disease Research - No. NS40256 The Swiss National Science Foundation - No. PASMP3-123268 The Polish Foundation for Development of Neurology, Degenerative and Cerebrovascular Diseases. istex:E912089DAECC4BEB172EB5FC5D7EE26D83CBEC6E Potential conflict of interest: Nothing to report. ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0885-3185 1531-8257 1531-8257
DOI:	10.1002/mds.23283