Parkinson's disease due to the R1441G mutation in Dardarin: A founder effect in the basques

The recent discovery of mutations in Dardarin (LRRK2) have been related to the appearance of Parkinson's disease in several families. Notably, one single mutation in this gene (R1441G) not only appeared in familial, but also in apparently sporadic Parkinson disease (PD) patients of Basque desce...

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Veröffentlicht in:Movement disorders Jg. 21; H. 11; S. 1954 - 1959
Hauptverfasser: Simón-Sánchez, Javier, Martí-Massó, José-Félix, Sánchez-Mut, José Vicente, Paisán-Ruiz, Coro, Martínez-Gil, Angel, Ruiz-Martínez, Javier, Sáenz, Amets, Singleton, Andrew B., López de Munain, Adolfo, Pérez-Tur, Jordi
Format: Journal Article
Sprache:Englisch
Veröffentlicht: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.11.2006
Wiley
Schlagworte:
Aged
Arginine - genetics
Basque Country
Biological and medical sciences
Chromosomes, Human, Pair 12
Dardarin
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Demography
DNA Mutational Analysis
Family Health
Female
founder effect
Glycine - genetics
Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy
Humans
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
LRRK2
Male
Medical sciences
Middle Aged
Nervous system (semeiology, syndromes)
Neurology
Parkinson Disease - epidemiology
Parkinson Disease - genetics
Parkinson's disease
Polymorphism, Single Nucleotide
Protein-Serine-Threonine Kinases - genetics
Spain - epidemiology
Spain - ethnology
Nervous system diseases
Parkinson's disease
founder effect
Dardarin
LRRK2
Central nervous system disease
Parkinson disease
Degenerative disease
Basque Country
Mutation
Cerebral disorder
Extrapyramidal syndrome
ISSN:0885-3185, 1531-8257
Online-Zugang:Volltext
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Zusammenfassung:The recent discovery of mutations in Dardarin (LRRK2) have been related to the appearance of Parkinson's disease in several families. Notably, one single mutation in this gene (R1441G) not only appeared in familial, but also in apparently sporadic Parkinson disease (PD) patients of Basque descent. A clinical population was ascertained, and subjects were classified into Basque and non‐Basque descent according to their known ancestry. The R1441G mutation was assayed using an allele‐specific polymerase chain reaction, and several single nucleotide polymorphisms surrounding this mutation were analyzed by direct sequencing. In addition to 22 members of the original Basque families where R1441G was identified, we observed 17 carriers of the mutation who were apparently related through a common ancestor. From a clinical perspective, the disease observed in mutation carriers is indistinguishable from that in noncarriers. The R1441G mutation causes a form of Parkinson's disease that is equivalent to that observed in idiopathic Parkinson's disease. This mutation appears in 16.4% and 4.0% of familial and sporadic PD in this Basque population, respectively. © 2006 Movement Disorder Society
Bibliographie:istex:47F64B595DB88EBD1D11014B776E48E2E1A12B34
CSIC
Fundacion Ilundain
Groups of Excellence of the Generalitat Valenciana - No. GRUPOS03/015
ark:/67375/WNG-LPZ05SJB-8
ArticleID:MDS21114
Basque Government
National Institute on Aging, National Institutes of Health (Bethesda, MD)
Fundación Ramón Areces (DI-TER PARKINSON)
Ministerio de Educación y Ciencia - No. GEN2001-4851-C01
ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:0885-3185
1531-8257
DOI:10.1002/mds.21114