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SYNE1-ataxia: Novel genotypic and phenotypic findings.
Indelicato, Elisabetta; Nachbauer, Wolfgang; Fauth, Christine; Krabichler, Birgit; Schossig, Anna; Eigentler, Andreas; Dichtl, Wolfgang; Wenning, Gregor; Wagner, Michaela; Fanciulli, Alessandra; Janecke, Andreas; Boesch, Sylvia.
Afiliação
  • Indelicato E; Department of Neurology, Innsbruck Medical University, Anichstraße 35, AT6020, Innsbruck, Austria.
  • Nachbauer W; Department of Neurology, Innsbruck Medical University, Anichstraße 35, AT6020, Innsbruck, Austria. Electronic address: wolfgang.nachbauer@i-med.ac.at.
  • Fauth C; Division of Human Genetics, Innsbruck Medical University, Anichstraße 35, AT6020, Innsbruck, Austria.
  • Krabichler B; Division of Human Genetics, Innsbruck Medical University, Anichstraße 35, AT6020, Innsbruck, Austria.
  • Schossig A; Division of Human Genetics, Innsbruck Medical University, Anichstraße 35, AT6020, Innsbruck, Austria.
  • Eigentler A; Department of Neurology, Innsbruck Medical University, Anichstraße 35, AT6020, Innsbruck, Austria.
  • Dichtl W; Department of Cardiology and Angiology, Innsbruck Medical University, Anichstraße 35, AT6020, Innsbruck, Austria.
  • Wenning G; Department of Neurology, Innsbruck Medical University, Anichstraße 35, AT6020, Innsbruck, Austria.
  • Wagner M; Department of Neuroradiology, Innsbruck Medical University, Anichstraße 35, AT6020, Innsbruck, Austria.
  • Fanciulli A; Department of Neurology, Innsbruck Medical University, Anichstraße 35, AT6020, Innsbruck, Austria.
  • Janecke A; Division of Human Genetics, Innsbruck Medical University, Anichstraße 35, AT6020, Innsbruck, Austria.
  • Boesch S; Department of Neurology, Innsbruck Medical University, Anichstraße 35, AT6020, Innsbruck, Austria.
Parkinsonism Relat Disord ; 62: 210-214, 2019 05.
Article em En | MEDLINE | ID: mdl-30573412
INTRODUCTION: SYNE1 encodes nesprin-1, a scaffold protein which is involved in the binding between cytoskeleton, nuclear envelope and other subcellular compartments. In 2007, recessive truncating SYNE1 mutations have been linked to a genetic form of pure cerebellar ataxia with adult onset and mild phenotype. Subsequent reports described a number of patients with SYNE1-ataxia and widespread neurological involvement including features of motor neuron disease. Recently, heterozygote missense SYNE1 mutations have been associated with muscular disorders, such as Emery-Dreifuss muscular dystrophy, arthrogryposis multiplex congenita and dilated cardiomyopathy. METHODS: Herein we describe novel genotypic and phenotypic findings in an independent cohort of 5 patients with SYNE1-ataxia referring to the Department of Neurology of the Innsbruck Medical University and performed a review of the related literature. RESULTS: We report 3 novel mutations and describe for the first time myocardial involvement in a patient with a complicated spastic-ataxic phenotype and C-terminal mutation. In the literature, mutations associated with additional motor neuron signs spanned over the entire gene, but patients with a particularly severe phenotype and premature death bore C-terminal mutations. CONCLUSION: Our findings support a genotype-phenotype correlation in SYNE1-ataxia and suggest the need for a systematic cardiologic evaluation in the setting of complicated spastic-ataxia phenotypes.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Ataxia Cerebelar / Atrofia Óptica / Ataxias Espinocerebelares / Proteínas do Citoesqueleto / Genótipo / Deficiência Intelectual / Espasticidade Muscular / Proteínas do Tecido Nervoso Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Ataxia Cerebelar / Atrofia Óptica / Ataxias Espinocerebelares / Proteínas do Citoesqueleto / Genótipo / Deficiência Intelectual / Espasticidade Muscular / Proteínas do Tecido Nervoso Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article