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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| Vydané v: | Movement disorders Ročník 21; číslo 11; s. 1954 - 1959 |
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01.11.2006
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| Abstract | 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 |
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| AbstractList | 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 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. 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.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. |
| Author | Ruiz-Martínez, Javier Martí-Massó, José-Félix Paisán-Ruiz, Coro López de Munain, Adolfo Simón-Sánchez, Javier Martínez-Gil, Angel Pérez-Tur, Jordi Sánchez-Mut, José Vicente Singleton, Andrew B. Sáenz, Amets |
| Author_xml | – sequence: 1 givenname: Javier surname: Simón-Sánchez fullname: Simón-Sánchez, Javier organization: Unitat de Genètica Molecular, Institut de Biomedicina de València-CSIC, València, Spain – sequence: 2 givenname: José-Félix surname: Martí-Massó fullname: Martí-Massó, José-Félix organization: Servicio de Neurología, Hospital Donostia, San Sebastián, Spain – sequence: 3 givenname: José Vicente surname: Sánchez-Mut fullname: Sánchez-Mut, José Vicente organization: Unitat de Genètica Molecular, Institut de Biomedicina de València-CSIC, València, Spain – sequence: 4 givenname: Coro surname: Paisán-Ruiz fullname: Paisán-Ruiz, Coro organization: Laboratory of Neurogenetics, National Institute of Aging-NIH, Bethesda, MD, USA – sequence: 5 givenname: Angel surname: Martínez-Gil fullname: Martínez-Gil, Angel organization: Servicio de Neurología, Ntra, Señora de la Antigua, Zumárraga, Spain – sequence: 6 givenname: Javier surname: Ruiz-Martínez fullname: Ruiz-Martínez, Javier organization: Servicio de Neurología, Hospital de Mendaro, Mendaro, Spain – sequence: 7 givenname: Amets surname: Sáenz fullname: Sáenz, Amets organization: Unidad Experimental, Hospital Donostia, San Sebastián, Spain – sequence: 8 givenname: Andrew B. surname: Singleton fullname: Singleton, Andrew B. organization: Laboratory of Neurogenetics, National Institute of Aging-NIH, Bethesda, MD, USA – sequence: 9 givenname: Adolfo surname: López de Munain fullname: López de Munain, Adolfo organization: Servicio de Neurología, Hospital Donostia, San Sebastián, Spain – sequence: 10 givenname: Jordi surname: Pérez-Tur fullname: Pérez-Tur, Jordi email: jpereztur@ibv.csic.es organization: Unitat de Genètica Molecular, Institut de Biomedicina de València-CSIC, València, Spain |
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| Cites_doi | 10.1016/j.neuron.2004.10.023 10.1001/archneur.56.1.33 10.1007/s00415-004-0333-3 10.1016/j.neulet.2005.03.033 10.1086/502802 10.1038/sj.ejhg.5201539 10.1002/ana.20391 10.1016/j.neuron.2004.11.005 |
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| Keywords | 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 |
| Language | English |
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| References | Mata IF, Taylor JP, Kachergus J, et al. LRRK2 R1441G in Spanish patients with Parkinson's disease. Neurosci Lett 2005; 382: 309-311. Bergareche A, De La Puente E, Lopez de Munain A, et al. Prevalence of Parkinson's disease and other types of Parkinsonism. A door-to-door survey in Bidasoa, Spain. J Neurol 2004; 251: 340-345. Di Fonzo A, Tassorelli C, De Mari M, et al. Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease. Eur J Hum Genet 2006; 14: 322-331. Paisán-Ruiz C, Saenz A, Lopez de Munain A, et al. Familial Parkinson's disease: clinical and genetic analysis of four Basque families. Ann Neurol 2005; 57: 365-372. Gelb DJ, Oliver E, Gilman S. Diagnostic criteria for Parkinson disease. Arch Neurol 1999; 56: 33-39. Paisan-Ruiz C, Jain S, Evans EW, et al. Cloning of the gene containing mutations that cause PARK8-Linked Parkinson's disease. Neuron 2004; 44: 595-600. Zimprich A, Biskup S, Leitner P, et al. Mutations in LRRK2 cause autosomal-dominant Parkinsonism with pleomorphic pathology. Neuron 2004; 44: 601-607. Scheet P. and Stephens M. A fast and flexible statistical model for large-scale population genotype data: applications to inferring missing genotypes and haplotypic phase. Am J Hum Genet 2006; 78: 629-644. 2004; 44 1999; 56 2005; 382 2006; 78 2004; 251 2005; 57 2006; 14 e_1_2_6_8_2 e_1_2_6_7_2 e_1_2_6_9_2 e_1_2_6_4_2 e_1_2_6_3_2 e_1_2_6_6_2 e_1_2_6_5_2 e_1_2_6_2_2 |
| References_xml | – reference: Mata IF, Taylor JP, Kachergus J, et al. LRRK2 R1441G in Spanish patients with Parkinson's disease. Neurosci Lett 2005; 382: 309-311. – reference: Bergareche A, De La Puente E, Lopez de Munain A, et al. Prevalence of Parkinson's disease and other types of Parkinsonism. A door-to-door survey in Bidasoa, Spain. J Neurol 2004; 251: 340-345. – reference: Paisán-Ruiz C, Saenz A, Lopez de Munain A, et al. Familial Parkinson's disease: clinical and genetic analysis of four Basque families. Ann Neurol 2005; 57: 365-372. – reference: Zimprich A, Biskup S, Leitner P, et al. Mutations in LRRK2 cause autosomal-dominant Parkinsonism with pleomorphic pathology. Neuron 2004; 44: 601-607. – reference: Paisan-Ruiz C, Jain S, Evans EW, et al. Cloning of the gene containing mutations that cause PARK8-Linked Parkinson's disease. Neuron 2004; 44: 595-600. – reference: Di Fonzo A, Tassorelli C, De Mari M, et al. Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease. Eur J Hum Genet 2006; 14: 322-331. – reference: Gelb DJ, Oliver E, Gilman S. Diagnostic criteria for Parkinson disease. Arch Neurol 1999; 56: 33-39. – reference: Scheet P. and Stephens M. A fast and flexible statistical model for large-scale population genotype data: applications to inferring missing genotypes and haplotypic phase. Am J Hum Genet 2006; 78: 629-644. – volume: 56 start-page: 33 year: 1999 end-page: 39 article-title: Diagnostic criteria for Parkinson disease publication-title: Arch Neurol – volume: 78 start-page: 629 year: 2006 end-page: 644 article-title: A fast and flexible statistical model for large‐scale population genotype data: applications to inferring missing genotypes and haplotypic phase publication-title: Am J Hum Genet – volume: 382 start-page: 309 year: 2005 end-page: 311 article-title: LRRK2 R1441G in Spanish patients with Parkinson's disease publication-title: Neurosci Lett – volume: 44 start-page: 601 year: 2004 end-page: 607 article-title: Mutations in LRRK2 cause autosomal‐dominant Parkinsonism with pleomorphic pathology publication-title: Neuron – volume: 44 start-page: 595 year: 2004 end-page: 600 article-title: Cloning of the gene containing mutations that cause PARK8‐Linked Parkinson's disease publication-title: Neuron – volume: 57 start-page: 365 year: 2005 end-page: 372 article-title: Familial Parkinson's disease: clinical and genetic analysis of four Basque families publication-title: Ann Neurol – volume: 251 start-page: 340 year: 2004 end-page: 345 article-title: Prevalence of Parkinson's disease and other types of Parkinsonism. A door‐to‐door survey in Bidasoa, Spain publication-title: J Neurol – volume: 14 start-page: 322 year: 2006 end-page: 331 article-title: Comprehensive analysis of the gene in sixty families with Parkinson's disease publication-title: Eur J Hum Genet – ident: e_1_2_6_2_2 doi: 10.1016/j.neuron.2004.10.023 – ident: e_1_2_6_4_2 doi: 10.1001/archneur.56.1.33 – ident: e_1_2_6_7_2 doi: 10.1007/s00415-004-0333-3 – ident: e_1_2_6_8_2 doi: 10.1016/j.neulet.2005.03.033 – ident: e_1_2_6_5_2 doi: 10.1086/502802 – ident: e_1_2_6_9_2 doi: 10.1038/sj.ejhg.5201539 – ident: e_1_2_6_6_2 doi: 10.1002/ana.20391 – ident: e_1_2_6_3_2 doi: 10.1016/j.neuron.2004.11.005 |
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| Snippet | The recent discovery of mutations in Dardarin (LRRK2) have been related to the appearance of Parkinson's disease in several families. Notably, one single... The recent discovery of mutations in Dardarin ( LRRK2 ) have been related to the appearance of Parkinson's disease in several families. Notably, one single... |
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| SubjectTerms | 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 |
| Title | Parkinson's disease due to the R1441G mutation in Dardarin: A founder effect in the basques |
| URI | https://api.istex.fr/ark:/67375/WNG-LPZ05SJB-8/fulltext.pdf https://onlinelibrary.wiley.com/doi/abs/10.1002%2Fmds.21114 https://www.ncbi.nlm.nih.gov/pubmed/16991141 https://www.proquest.com/docview/21172761 https://www.proquest.com/docview/68223242 |
| Volume | 21 |
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