دورية أكاديمية
LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans.
| العنوان: | LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans. |
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| المؤلفون: | Lesage S; Institut National de la Santé et de la Recherche Médicale Unité 679, Neurology and Experimental Therapeutics, and Faculté de Médecine, Université Pierre et Marie Curie, 75651 Paris CEDEX 13, France., Janin S, Lohmann E, Leutenegger AL, Leclere L, Viallet F, Pollak P, Durif F, Thobois S, Layet V, Vidailhet M, Agid Y, Dürr A, Brice A, Bonnet AM, Borg M, Broussolle E, Damier P, Destée A, Martinez M, Penet C, Rasco O, Tison F, Tranchan C, Vérin M |
| مؤلفون مشاركون: | French Parkinson's Disease Genetics Study Group |
| المصدر: | Archives of neurology [Arch Neurol] 2007 Mar; Vol. 64 (3), pp. 425-30. |
| نوع المنشور: | Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: American Medical Assn Country of Publication: United States NLM ID: 0372436 Publication Model: Print Cited Medium: Print ISSN: 0003-9942 (Print) Linking ISSN: 00039942 NLM ISO Abbreviation: Arch Neurol Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Chicago, American Medical Assn. |
| مواضيع طبية MeSH: | Mutation*, Exons/*genetics , Parkinson Disease/*genetics , Protein Serine-Threonine Kinases/*genetics, Adolescent ; Adult ; Aged ; Aged, 80 and over ; DNA Mutational Analysis/methods ; Europe ; Female ; Histidine/genetics ; Humans ; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 ; Male ; Middle Aged ; Serine/genetics ; Threonine/genetics ; Tyrosine/genetics |
| مستخلص: | Background: Mutations in leucine-rich repeat kinase 2 gene (LRRK2), particularly the G2019S mutation in exon 41, have been detected in familial and sporadic Parkinson disease (PD) cases. Objectives: To assess the frequency of LRRK2 exon 41 mutations in a series of sporadic PD cases from Europe and to determine the clinical features of LRRK2 mutation carriers. Design: We analyzed European cases of sporadic PD for the presence of LRRK2 exon 41 mutations. These mutations were screened by denaturing high-performance liquid chromatography, and abnormal chromatograph traces were investigated by direct sequencing to determine the exact nature of the variants. Early-onset sporadic PD cases were also screened for parkin mutations. The haplotypes associated with the G2019S mutation were determined. The clinical characteristics of patients carrying LRRK2 mutations were detailed. Setting: French Network for the Study of Parkinson Disease Genetics. Patients Three hundred twenty patients with apparently sporadic PD from Europe. Main Outcome Measures: Results of genetic analyses. Results: We found the G2019S mutation in 6 patients and identified 2 new variants (Y2006H and T2031S) in 1 patient each. Their clinical features were similar to those of typical PD. All G2019S mutation carriers shared a common haplotype. Conclusions: The G2019S mutation is almost as frequent in sporadic cases (1.9%) as in previously reported familial cases (2.9%) in Europe and occurs in the same common founder. We identified 2 novel variants. Although the phenotype of LRRK2 mutation carriers closely resembles that of typical PD, the age at onset was younger (29 years in 1 patient) than previously described, and 3 patients were improved by deep brain stimulation. |
| معلومات مُعتمدة: | NS41723-01A1 United States NS NINDS NIH HHS |
| المشرفين على المادة: | 2ZD004190S (Threonine) 42HK56048U (Tyrosine) 452VLY9402 (Serine) 4QD397987E (Histidine) EC 2.7.11.1 (LRRK2 protein, human) EC 2.7.11.1 (Leucine-Rich Repeat Serine-Threonine Protein Kinase-2) EC 2.7.11.1 (Protein Serine-Threonine Kinases) |
| تواريخ الأحداث: | Date Created: 20070314 Date Completed: 20070424 Latest Revision: 20220409 |
| رمز التحديث: | 20231215 |
| DOI: | 10.1001/archneur.64.3.425 |
| PMID: | 17353388 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 0003-9942 |
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| DOI: | 10.1001/archneur.64.3.425 |