6 documents found, page 1 of 1
Dementia in Fragile X-associated Tremor/Ataxia Syndrome
Nitrini,Ricardo; Gonçalves,Márcia Rúbia R.; Capelli,Leonardo P.; Barbosa,Egberto Reis; Porto,Cláudia Sellitto; Amaro,Edson; Otto,Paulo AlbertoAbstract Fragile X-associated tremor/ataxia syndrome (FXTAS) is a cause of movement disorders and cognitive decline which has probably been underdiagnosed, especially if its prevalence proves similar to those of progressive supranuclear palsy and amyotrophic lateral sclerosis. We report a case of a 74-year-old man who presented with action tremor, gait ataxia and forgetfulness. There was a family history of tre...
Widening the clinical spectrum of Pitt-Rogers-Danks/Wolf-Hirschhorn syndromes
Mazzeu,Juliana F.; Krepischi-Santos,Ana Cristina; Rosenberg,Carla; Lourenço,Charles M.; Lezirovitz,Karina; Szuhai,Karoly; Martelli,Lúcia R.Chromosomal rearrangements involving partial deletion of the short arm of chromosome 4 and partial duplication of the short arm of chromosome 8 have been described both in Pitt-Rogers-Danks syndrome (PRDS) and Wolf-Hirschhorn syndrome (WHS), the former being considered a milder phenotype of the latter. We describe a patient with partial deletion of chromosome 4 and partial duplication of chromosome 8 documented...
The FMR1 premutation as a cause of premature ovarian failure in Brazilian women
Costa,Silvia S.; Fonseca,Angela M. da; Bagnoli,Vicente R.; Vianna-Morgante,Angela M.The loss-of-function mutation of the FMR1 gene due to expansion of the 5' UTR CGG repeat causes the fragile X syndrome, the most frequent form of inherited mental retardation. On the other hand, the FMR1 premutation, which is transcriptionally active and produces the protein, confers an increased risk for premature ovarian failure (POF) to carrier females. Among 41 unrelated Brazilian women with idiopathic POF,...
Structure and stability upon maternal transmission of common and intermediate F...
Capelli,Leonardo P.; Mingroni-Netto,Regina C.; Vianna-Morgante,Angela M.In order to investigate the stability of the FMR1 (Fragile X Mental Retardation 1) alleles from the normal population, when maternally inherited, we analyzed 75 mother-to-son transmissions. Sixty-eight alleles fell within the common range with 20-40 CGG repeats, and seven alleles were intermediate, with 41-48 repeats. No change was observed either in the length or in the structure of these repeats upon transmis...
Premature ovarian failure (POF) in Brazilian fragile X carriers
Vianna-Morgante,Angela M.; Costa,Silvia S.; Pavanello,Rita de C.M.; Otto,P.A.; Mingroni-Netto,Regina C.The gynecological and reproductive histories of 193 women from fragile X families were surveyed. Among the 101 carriers of the premutation, 14 experienced premature menopause, contrarily to their 37 fully mutated and 55 noncarrier female relatives. Although premature menopause showed a tendency to cluster in certain fragile X families, as a group, the premutated women experienced menopause earlier than noncarri...
Experience with molecular and cytogenetic diagnosis of fragile X syndrome in Br...
Mingroni-Netto,Regina C.; Pavanello,Rita C.M.; Otto,Paulo A.; Vianna-Morgante,Angela M.We report on the cytogenetic and DNA analysis of 55 families with the fragile X (FMR-1 locus) mutation (318 individuals and 15 chorionic villi samples). A total of 129 males were investigated, 54 mentally normal and 75 presenting mental retardation. Among the 54 normal males, 11 had the premutation, and none expressed the fragile site. The full mutation was detected in 73 retarded males, and 14 (18%) presented ...