Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Interest in genetic testing in pallido-ponto-nigral degeneration (PPND): afamily with frontotemporal dementia with Parkinsonism linked to chromosome17
Autore:
McRae, CA; Diem, G; Yamazaki, TG; Mitek, A; Wszolek, ZK;
Indirizzi:
Mayo Clin, Dept Neurol, Jacksonville, FL 32224 USA Mayo Clin JacksonvilleFL USA 32224 pt Neurol, Jacksonville, FL 32224 USA Univ Denver, Denver, CO USA Univ Denver Denver CO USAUniv Denver, Denver, CO USA
Titolo Testata:
EUROPEAN JOURNAL OF NEUROLOGY
fascicolo: 2, volume: 8, anno: 2001,
pagine: 179 - 183
SICI:
1351-5101(200103)8:2<179:IIGTIP>2.0.ZU;2-B
Fonte:
ISI
Lingua:
ENG
Soggetto:
AUTOSOMAL-DOMINANT PARKINSONISM; HUNTINGTONS-DISEASE; RISK; ATTITUDES; DECISION; WALES;
Keywords:
FTDP-17; genetic testing; PPND N279K tau mutation;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
31
Recensione:
Indirizzi per estratti:
Indirizzo: Wszolek, ZK Mayo Clin, Dept Neurol, 4500 San Pablo Rd, Jacksonville, FL 32224 USA Mayo Clin 4500 San Pablo Rd Jacksonville FL USA 32224 2224 USA
Citazione:
C.A. McRae et al., "Interest in genetic testing in pallido-ponto-nigral degeneration (PPND): afamily with frontotemporal dementia with Parkinsonism linked to chromosome17", EUR J NEUR, 8(2), 2001, pp. 179-183

Abstract

The specific mutation on the tau gene responsible for a neurodegenerative disease known as pallido-ponto-nigral degeneration (PPND) was recently located. PPND family members are at risk for an autosomal dominant form of frontotemporal dementia with Parkinsonism linked to chromosome 17 (FTDP-17). This study investigated whether individuals in this family would consider presymptomatic genetic testing. Surveys were sent to 66 at-risk individuals inthe family; replies were received from 20 (30%). Family members were askedif they would consider having testing now or in the future, and to indicate their reasons for and against proceeding with testing. Fifty per cent (n = 10) of those who were at risk and who responded indicated they would consider testing now, and 55% (n = 11) would think about it in the future. The most frequently cited reasons to proceed with testing were to 'collaborate with research' (70%) and to 'know if my children are at risk' (45%). The most frequently cited reason not to pursue testing was 'I can enjoy my life more fully by not knowing' (50%). Results suggest that interest in determining whether they will manifest PPND is generally low among at-risk members of this family, despite wide support and participation in other research studies.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/06/19 alle ore 17:23:55