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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Bibliographic Details
Published in:Movement disorders Vol. 25; no. 13; pp. 2052 - 2058
Main Authors: 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.
Format: Journal Article
Language:English
Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 15.10.2010
Wiley
Subjects:
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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Summary: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
Bibliography: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