5 documents found, page 1 of 1
Diagnosis and Management of Classica Homocystinuria in Brazil: A Summary of 72 ...
Poloni,Soraia; Hoss,Giovana W.; Sperb-Ludwig,Fernanda; Borsatto,Taciane; Doriqui,Maria Juliana R.; Leão,Emília K.E.A; Boa-Sorte,Ney; Lourenço,Charles M.Abstract This study described a broad clinical characterization of classical homocystinuria (HCU) in Brazil. This was a cross-sectional, observational study including clinical and biochemical data from 72 patients (60 families) from Brazil (South, n = 13; Southeast, n = 37; Northeast, n = 8; North, n = 1; and Midwest, n = 1). Parental consanguinity was reported in 42% of families. Ocular manifestations were the...
Molecular Analysis of 9 Unrelated Families Presenting With Juvenile and Chronic...
Baptista,Marcella B.; Scherrer,Daniel Z.; Bonadia,Luciana C.; Steiner,Carlos E.Abstract GM1 gangliosidosis is a rare autosomal recessive lysosomal storage disorder with high prevalence in Brazil (1:17 000). In the present study, we genotyped 10 individuals of 9 unrelated families from the States of São Paulo and Minas Gerais diagnosed with the juvenile and chronic forms of the disease. We found the previously described p.Thr500Ala mutation in 8 alleles; c.1622-1627insG and p.Arg59His in 2...
Cognitive and behavioral heterogeneity in genetic syndromes
Pegoraro,Luiz F.L.; Steiner,Carlos E.; Celeri,Eloisa H.R.V.; Banzato,Claudio E.M.; Dalgalarrondo,PauloOBJECTIVE:this study aimed to investigate the cognitive and behavioral profiles, as well as the psychiatric symptoms and disorders in children with three different genetic syndromes with similar sociocultural and socioeconomic backgrounds.METHODS:thirty-four children aged 6 to 16 years, with Williams-Beuren syndrome (n = 10), Prader-Willi syndrome (n = 11), and Fragile X syndrome (n = 13) from the outpatient cl...
Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2...
Lopes-Cendesi,Iscia; Teive,Hélio G.A.; Calcagnotto,Maria E; da Costa,Jaderson C.; Cardoso,Francisco; Viana,Erika; Maciel,Jaime A.; Radvany,JoãoSpinocerebellar ataxia type 1 (SCA1), spinocerebellar ataxia type 2 (SCA2) and Machado-Joseph disease or spinocerebellar ataxia type 3 (MJD/SCA3) are three distinctive forms of autosomal dominant spinocerebellar ataxia (SCA) caused by expansions of an unstable CAG repeat localized in the coding region of the causative genes. Another related disease, dentatorubropallidoluysian atrophy (DRPLA) is also caused by a...
Clinical and molecular characteristics of a Brazilian family with spinocerebell...
Lopes-Cendes,Iscia; Steiner,Carlos E.; Silveira,Isabel; Pinto-Junior,Walter; Maciel,Jayme A.; Rouleau,Guy A.The spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of late onset neurodegenerative disorders. To date, seven different genes causing autosomal dominant SCA have been mapped: SCA1, SCA2, Machado-Joseph disease (MJD)/SCA3, SCA4, SCA5, SCA7 and dentatorubropallidoluysian atrophy (DRPLA). Expansions of an unstable trinucleotide CAG repeat cause three of these disorders: SCA1, MJ...