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Titolo:
Neurobehavioral phenotype in carriers of the fragile X premutation
Autore:
Johnston, C; Eliez, S; Dyer-Friedman, J; Hessl, D; Glaser, B; Blasey, C; Taylor, A; Reiss, A;
Indirizzi:
Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Stanford, CA 94305 USA Stanford Univ Stanford CA USA 94305 t & Behav Sci, Stanford, CA 94305 USA Kimball Genet Inc, Denver, CO USA Kimball Genet Inc Denver CO USAKimball Genet Inc, Denver, CO USA
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 4, volume: 103, anno: 2001,
pagine: 314 - 319
SICI:
0148-7299(20011101)103:4<314:NPICOT>2.0.ZU;2-0
Fonte:
ISI
Lingua:
ENG
Soggetto:
FMR1 GENE MUTATION; FEMALE CARRIERS; COGNITIVE PROFILES; FULL MUTATION; PSYCHIATRIC-DISORDERS; FRA(X) SYNDROME; INVOLVEMENT; MALES; EXPRESSION; GIRLS;
Keywords:
fragile X syndrome; premutation; allele size; psychological symptoms; cognition;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
39
Recensione:
Indirizzi per estratti:
Indirizzo: Reiss, A Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, 401 Quarry Rd,Stanford, CA 94305 USA Stanford Univ 401 Quarry Rd Stanford CA USA 94305 d, CA 94305 USA
Citazione:
C. Johnston et al., "Neurobehavioral phenotype in carriers of the fragile X premutation", AM J MED G, 103(4), 2001, pp. 314-319

Abstract

There have been contradictory findings in the fragile X (fraX) literature about possible neurocognitive and psychological symptoms due to the fraX premutation (pM). The purpose of the present study was to investigate the relationship between CGG repeat length and neurobehavioral functioning in carriers of the fraX pM. Eighty-five female carriers of the pM with allele sizes ranging from 59-166 were administered a comprehensive IQ test (WAIS-III) and completed a questionnaire designed to measure psychopathology (Symptom Checklist (SCL)-90-R). No relationship between allele size and cognition was identified. A significant negative relationship between allele size and age was found, as well as a positive relationship between allele size and depression. Followup analyses separating small and large allele sizes (below and above 100 CGG repeats) indicated that individuals with larger allele sizes scored significantly higher on the Interpersonal Sensitivity and Depression subscales of the SCL-90-R. Despite the limitation of few individuals with high CGG repeat lengths, our findings suggest that females with larger premutated alleles (greater than or equal to 100 repeats) display some clinical manifestations of fraX syndrome. (C) 2001 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/09/20 alle ore 23:53:17