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Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach.
Burguez, Daniela; Polese-Bonatto, Márcia; Scudeiro, Laís Alves Jacinto; Björkhem, Ingemar; Schöls, Ludger; Jardim, Laura Bannach; Matte, Ursula; Saraiva-Pereira, Maria Luiza; Siebert, Marina; Saute, Jonas Alex Morales.
Afiliação
  • Burguez D; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Genetics Identification Laboratory (Experimental Research Center), Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
  • Polese-Bonatto M; Genetics Identification Laboratory (Experimental Research Center), Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Postgraduate Program in Biochemistry, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
  • Scudeiro LAJ; Postgraduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
  • Björkhem I; Karolinska University Hospital Huddinge, Karolinska Institute, Stockholm, Sweden.
  • Schöls L; Center for Neurology, Hertie Institute for Clinical Brain Research, Eberhard-Karls-University, Tübingen, Germany.
  • Jardim LB; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Genetics Identification Laboratory (Experimental Research Center), Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Gra
  • Matte U; Unit of Molecular and Protein Analysis (Experimental Research Center), Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Department of Genetics, Universidade Federal do
  • Saraiva-Pereira ML; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Genetics Identification Laboratory (Experimental Research Center), Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Postgraduate Program in Biochemistry, Universidade Federal do Rio Grande do Sul, Porto
  • Siebert M; Unit of Molecular and Protein Analysis (Experimental Research Center), Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Postgraduate Program in Gastroenterology and Hepatology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
  • Saute JAM; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Neurology Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Genetics Identification Laboratory (Experimental Research Center), Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Postgrad
J Neurol Sci ; 383: 18-25, 2017 Dec 15.
Article em En | MEDLINE | ID: mdl-29246610
BACKGROUND: Molecular diagnosis of hereditary spastic paraplegias (HSP) is a difficult task due to great clinical and genetic heterogeneity. We aimed to characterize clinical and molecular findings of HSP families from Rio Grande do Sul, Brazil; and to evaluate the diagnostic yield of a next-generation sequencing (NGS) panel with twelve HSP-related genes. METHODS: A consecutive series of HSP index cases with familial recurrence of spasticity, consanguinity or thin corpus callosum (TCC) were included in this cross-sectional study. RESULTS: Among the 29 index cases, 51.7% (15/29) received at least a likely molecular diagnosis, and 48.3% (14/29) a defined diagnosis. NGS panel diagnostic yield was 60% for autosomal dominant HSP (6/10, all SPG4), 47.4% for autosomal recessive HSP (9/19: 5 SPG11, 2 SPG7, 1 SPG5 and 1 cerebrotendinous xanthomatosis), and 50% for patients with TCC (3/6, all SPG11). Remarkably, 2/6 SPG11 patients presented keratoconus, and tendon xanthomas were absent in the patient with cerebrotendinous xanthomatosis. CONCLUSION: A likely molecular diagnosis was obtained for more than half of families with the NGS panel, indicating that this approach could be employed as a first-line investigation for HSP. SPG4 is the most frequent form of autosomal dominant and SPG11 of autosomal recessive HSP in Southern Brazil.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / Testes Genéticos / Sequenciamento de Nucleotídeos em Larga Escala Tipo de estudo: Diagnostic_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male Idioma: En Revista: J Neurol Sci Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Brasil País de publicação: Holanda
Texto completo
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / Testes Genéticos / Sequenciamento de Nucleotídeos em Larga Escala Tipo de estudo: Diagnostic_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male Idioma: En Revista: J Neurol Sci Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Brasil País de publicação: Holanda