4 documents found, page 1 of 1
HTLV-1 and neurological conditions: when to suspect and when to order a diagnos...
Araújo,Abelardo Q.C.; Leite,Ana Claudia C.; Lima,Marco Antonio S.D.; Silva,Marcus Tulius T.HTLV-1 is a retrovirus associated with a myriad of clinical conditions, especially hematological and neurological ones. Regarding nervous system diseases, it is of utmost importance to select those cases in which HTLV-1 infection could really be associated. This is particularly true for patients from endemic areas and for HIV-infected patients and drug users, since that these groups are at a higher risk for HTL...
Molecular characteristics of Machado-Joseph disease mutation in 25 newly descri...
Lopes-Cendes,Iscia; Teive,Hélio G.A.; Cardoso,Francisco; Viana,Erika M.; Calcagnotto,Maria E.; Costa,Jaderson C. da; Trevisol-Bittencourt,Paulo C.Machado-Joseph disease (MJD) is a form of autosomal dominant spinocerebellar ataxia first described in North-American patients originating from the Portuguese islands of the Azores. Clinically this disorder is characterized by late onset progressive ataxia with associated features, such as: ophthalmoplegia, pyramidal and extrapyramidal signs and distal muscular atrophies. The causative mutation is an expansion ...
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...
Avaliação miométrica de pacientes com distrofia muscular de Duchenne
Araújo,Alexandra P.Q.C.; Duro,Luiz A.; Araújo,Abelardo Q.C.; Penque,Glória M.C.A.Os autores relatam sua experiência com a avaliação da força muscular pela utilização do miômetro manual em 16 pacientes com distrofia muscular de Duchenne (DMD). Observaram rápida diminuição da força de extensão da perna entre 6 e 8 anos de idade, analisando pacientes de diferentes faixas etárias. Paralelamente, ocorreu perda da deambulação. Verificaram aumentos de força em dois pacientes avaliados evolutivamen...