Please use this identifier to cite or link to this item: https://repositorio.unifesp.br/handle/11600/55197
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dc.contributor.authorMartinez, Alberto R. M.
dc.contributor.authorMoro, Adriana
dc.contributor.authorAbrahao, Agessandro [UNIFESP]
dc.contributor.authorFaber, Ingrid
dc.contributor.authorBorges, Conrado R.
dc.contributor.authorRezende, Thiago J. R.
dc.contributor.authorMartins, Carlos R., Jr.
dc.contributor.authorMoscovich, Mariana
dc.contributor.authorMunhoz, Renato P.
dc.contributor.authorSegal, Sandra Leistner
dc.contributor.authorArruda, Walter O.
dc.contributor.authorSaraiva-Pereira, Maria Luiza
dc.contributor.authorKaruta, Simone
dc.contributor.authorPedroso, Jose Luiz [UNIFESP]
dc.contributor.authorD'Abreu, Anelyssa
dc.contributor.authorJardim, Laura B.
dc.contributor.authorLopes-Cendes, Iscia
dc.contributor.authorBarsottini, Orlando G. [UNIFESP]
dc.contributor.authorTeive, Helio A. G.
dc.contributor.authorFranca, Marcondes C., Jr.
dc.date.accessioned2020-07-17T14:03:10Z-
dc.date.available2020-07-17T14:03:10Z-
dc.date.issued2017
dc.identifierhttp://dx.doi.org/10.1007/s12311-015-0755-8
dc.identifier.citationCerebellum. New York, v. 16, n. 1, p. 253-256, 2017.
dc.identifier.issn1473-4222
dc.identifier.urihttps://repositorio.unifesp.br/handle/11600/55197-
dc.description.abstractFriedreich's ataxia (FDRA) is the most common inherited ataxia worldwide, caused by homozygous GAA expansions in the FXN gene. Patients usually have early onset ataxia, areflexia, Babinski sign, scoliosis and pes cavus, but at least 25 % of cases have atypical phenotypes. Disease begins after the age of 25 in occasional patients (late-onset Friedreich ataxia (LOFA)). Little is known about the frequency and clinical profile of LOFA patients. One hundred six patients with molecular confirmation of FDRA and followed in three Brazilian outpatient centers were enrolled. General demographics, GAA expansion size, age at onset, cardiac, endocrine, and skeletal manifestations were evaluated and compared between LOFA and classic FDRA (cFDRA) groups. We used Mann-Whitney and Fisher tests to compare means and proportions between groupsen
dc.description.abstractp values < 0.05 were considered significant. LOFA accounted for 17 % (18/106) and cFDRA for 83 % (88/106) of the patients. There were 13 and 48 women in each group, respectively. LOFA patients were significantly older and had smaller GAA expansions. Clinically, LOFA group had a tendency toward lower frequency of diabetes/impaired glucose tolerance (5.8 vs. 17 %, p = 0.29) and cardiomyopathy (16.6 vs. 28.4 %, p = 0.38). Skeletal abnormalities were significantly less frequent in LOFA (scoliosis 22 vs. 61 %, p = 0.003, and pes cavus 22 vs.75 %, p < 0.001) as were spasticity and sustained reflexes, found in 22 % of LOFA patients but in none of the cFDRA patients (p = 0.001). LOFA accounts for 17 % of Brazilian FDRA patients evaluated herein. Clinically, orthopedic features and spasticity with retained reflexes are helpful tips to differentiate LOFA from cFDRA patients.en
dc.format.extent253-256
dc.language.isoeng
dc.publisherSpringer
dc.relation.ispartofCerebellum
dc.rightsAcesso restrito
dc.subjectLate-onset Friedreich ataxiaen
dc.subjectRetained reflexesen
dc.subjectSpastic ataxiaen
dc.subjectAtaxiaen
dc.titleNonneurological Involvement in Late-Onset Friedreich Ataxia (LOFA): Exploring the Phenotypesen
dc.typeArtigo
dc.description.affiliationUniv Campinas UNICAMP, Dept Neurol, Rua TessaliaVieira de Camargo 126, BR-13083970 Campinas, SP, Brazil
dc.description.affiliationUniv Fed Parana, Hosp Clin, Dept Internal Med, Movement Disorders Unit,Neurol Serv, Curitiba, Parana, Brazil
dc.description.affiliationUniv Fed Sao Paulo, Div Gen Neurol, Sao Paulo, Brazil
dc.description.affiliationUniv Fed Sao Paulo, Ataxia Unit, Sao Paulo, Brazil
dc.description.affiliationUniv Toronto, Toronto, ON, Canada
dc.description.affiliationFed Univ Rio Grande do Sul UFRGS, Med Genet Serv HCPA, Porto Alegre, RS, Brazil
dc.description.affiliationUniv Campinas UNICAMP, Dept Med Genet, Sao Paulo, Brazil
dc.description.affiliationUnifespUniv Fed Sao Paulo, Div Gen Neurol, Sao Paulo, Brazil
dc.description.affiliationUnifespUniv Fed Sao Paulo, Ataxia Unit, Sao Paulo, Brazil
dc.identifier.doi10.1007/s12311-015-0755-8
dc.description.sourceWeb of Science
dc.identifier.wosWOS:000393586100024
dc.coverageNew York
dc.citation.volume16
dc.citation.issue1
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