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Titolo:
Description of a simple test for CADASIL disease and determination of mutation frequencies in sporadic ischaemic stroke and dementia patients
Autore:
Wang, T; Sharma, SD; Fox, N; Rossor, M; Brown, MJ; Sharma, P;
Indirizzi:
St Thomas Hosp, London, England St Thomas Hosp London EnglandSt Thomas Hosp, London, England Univ Cambridge, Addenbrookes Hosp, Dept Clin Pharmacol, Cambridge CB2 2QQ,England Univ Cambridge Cambridge England CB2 2QQ acol, Cambridge CB2 2QQ,England Inst Neurol, Dementia Res Grp, London WC1N 3BG, England Inst Neurol London England WC1N 3BG ia Res Grp, London WC1N 3BG, England
Titolo Testata:
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
fascicolo: 5, volume: 69, anno: 2000,
pagine: 652 - 654
SICI:
0022-3050(200011)69:5<652:DOASTF>2.0.ZU;2-F
Fonte:
ISI
Lingua:
ENG
Soggetto:
NOTCH3 MUTATIONS; ISCHEMIC STROKE;
Keywords:
CADASIL; allele frequencies; polymorphisms;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
10
Recensione:
Indirizzi per estratti:
Indirizzo: Sharma, P St Thomas Hosp, London, England St Thomas Hosp London EnglandSt Thomas Hosp, London, England
Citazione:
T. Wang et al., "Description of a simple test for CADASIL disease and determination of mutation frequencies in sporadic ischaemic stroke and dementia patients", J NE NE PSY, 69(5), 2000, pp. 652-654

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare inherited adult onset disease characterised most commonly by cerebral ischaemic events and dementia. It is causedby mutations in the Notch3 gene with most clustering in exons 3 and 4. Whether these mutations have any influence on common sporadic ischaemic strokeor dementia cases has not been investigated, partly hampered by the lack of a readily usable genetic test. An easy to use diagnostic array for CADASIL was designed using various restriction endonucleases for the known mutations in exons 3 and 4 and novel mismatch primers were designed where no such enzymes existed. This array wasused to identify the allele frequencies of CADASIL mutations and polymorphisms in selected disease cohorts. Seventy patients with radiologically established sporadic ischaemic stroke and 77 patients from a specialist young dementia clinic were recruited. One hundred and seventeen age and sex matched asymptomatic controls were also identified. The diagnostic array was found to work well. None of the 14 known mutations and three previously identified polymorphisms (C474A, A587G, and C594A) in exons 3 and 4 were present in 140 stroke, 110 dementia, or 234 control chromosomes. Molecular variant C381T occurred with a higher frequency of 0.13, whereas G684A occurred with a lower frequency (0.09) than previously reported, although there were no statistical differences between selected cohorts. In conclusion, se readily usable genetic test for CADASIL has been devisedthat was used to determine allele frequencies in well characterised cohorts of sporadic stroke and dementia patients. The data suggest that despite the clinical resemblance, CAIDASIL is not a common masquerading cause of stroke or dementia. The test will enable units locally to rapidly screen patients with suspected CADASIL.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/09/20 alle ore 14:58:31