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Titolo:
Screening for PS1 mutations in a referral-based series of AD cases - 21 Novel mutations
Autore:
Rogaeva, EA; Fafel, KC; Song, YQ; Medeiros, H; Sato, C; Liang, Y; Richard, E; Rogaev, EI; Frommelt, P; Sadovnick, AD; Meschino, W; Rockwood, K; Boss, MA; Mayeux, R; St George-Hyslop, P;
Indirizzi:
Univ Toronto, Hlth Network, Ctr Res Neurodegenerat Dis, Toronto, ON, Canada Univ Toronto Toronto ON Canada s Neurodegenerat Dis, Toronto, ON, Canada Univ Toronto, Hlth Network, Div Neurol, Toronto, ON, Canada Univ Toronto Toronto ON Canada Network, Div Neurol, Toronto, ON, Canada Univ Toronto, Hlth Network, Dept Med, Toronto, ON, Canada Univ Toronto Toronto ON Canada th Network, Dept Med, Toronto, ON, Canada Athena Diagnost Inc, Worcester, MA USA Athena Diagnost Inc Worcester MA USA ena Diagnost Inc, Worcester, MA USA Asklepios Klin Schaufling, Dept Neurol Rehabil, Bavaria, Germany AsklepiosKlin Schaufling Bavaria Germany rol Rehabil, Bavaria, Germany Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada Univ British Columbia Vancouver BC Canada d Genet, Vancouver, BC, Canada Dept Med, Vancouver, BC, Canada Dept Med Vancouver BC CanadaDept Med, Vancouver, BC, Canada Russian Acad Med Sci, Mental Hlth Res Ctr, Moscow 109801, Russia Russian Acad Med Sci Moscow Russia 109801 Res Ctr, Moscow 109801, Russia N York Gen Hosp, Dept Med Genet, N York, ON, Canada N York Gen Hosp N York ON Canada osp, Dept Med Genet, N York, ON, Canada Dalhousie Univ, Div Geriatr Med, Halifax, NS, Canada Dalhousie Univ Halifax NS Canada v, Div Geriatr Med, Halifax, NS, Canada Taub Inst Res Alzheimers Dis & Aging Brain, New York, NY USA Taub Inst ResAlzheimers Dis & Aging Brain New York NY USA York, NY USA
Titolo Testata:
NEUROLOGY
fascicolo: 4, volume: 57, anno: 2001,
pagine: 621 - 625
SICI:
0028-3878(20010828)57:4<621:SFPMIA>2.0.ZU;2-K
Fonte:
ISI
Lingua:
ENG
Soggetto:
ONSET ALZHEIMERS-DISEASE; PRESENILIN-1 GENE; INTRONIC POLYMORPHISM; SPASTIC PARAPARESIS; ASSOCIATION; PLAQUES; IMMUNIZATION; VARIANT;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
26
Recensione:
Indirizzi per estratti:
Indirizzo: Rogaeva, EA Tanz Neurosci Bldg,6 Queens Pk Cr W, Toronto, ON M5S 3H2, Canada Tanz Neurosci Bldg,6 Queens Pk Cr W Toronto ON Canada M5S 3H2
Citazione:
E.A. Rogaeva et al., "Screening for PS1 mutations in a referral-based series of AD cases - 21 Novel mutations", NEUROLOGY, 57(4), 2001, pp. 621-625

Abstract

Background: Mutations in the presenilin-1 gene (PS1) account for a majority of patients with early-onset familial AD. However, the clinical indications and algorithms for genetic testing in dementia are still evolving. Methods: The entire open reading frame of the PS1 gene was sequenced in a seriesof 414 consecutive patients referred for diagnostic testing, including 372patients with AD and 42 asymptomatic persons with a strong family history of AD. Results: Forty-eight independent patients screened had a PSI mutation including 21 novel mutations. In addition, 3% of subjects (11/413) had a known polymorphism, the Glu318Gly substitution. The majority of the mutations were missense substitutions but there were three insertions and Delta exon 10 mutation. With six exceptions (codons 35, 178, 352, 354, 358, and 365) most of the mutations occurred at residues conserved in the homologous PS2 gene or in PS1 of other species. Conclusions: Eleven percent of a referral-based series of patients with AD can be explained by coding sequence mutations in the PS1 gene. The high frequency of PS1 mutations in this study indicates that screening for PS1 mutations in AD is likely to be successful, especially when directed at patients with a positive family history with onset before 60 years (90% of those with PS1 mutations were affected by age 60 years). This will also have significance for the secondary identificationof at-risk relatives who might be candidates for future prophylactic therapies for AD.

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Documento generato il 06/04/20 alle ore 06:01:21