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Clinical features and genetic characteristics of two Chinese pedigrees with fatal family insomnia.
He, Runcheng; Hu, Yacen; Yao, Lingyan; Tian, Yun; Zhou, Yafang; Yi, Fang; Zhou, Lin; Xu, Hongwei; Sun, Qiying.
Afiliación
  • He R; a Department of Neurology , Xiangya Hospital, Central South University , Changsha , Hunan , China.
  • Hu Y; b National Clinical Research Center for Geriatric Disorders , Changsha , Hunan , China.
  • Yao L; b National Clinical Research Center for Geriatric Disorders , Changsha , Hunan , China.
  • Tian Y; c Department of Geriatrics , Xiangya Hospital, Central South University , Changsha , China.
  • Zhou Y; b National Clinical Research Center for Geriatric Disorders , Changsha , Hunan , China.
  • Yi F; c Department of Geriatrics , Xiangya Hospital, Central South University , Changsha , China.
  • Zhou L; b National Clinical Research Center for Geriatric Disorders , Changsha , Hunan , China.
  • Xu H; c Department of Geriatrics , Xiangya Hospital, Central South University , Changsha , China.
  • Sun Q; b National Clinical Research Center for Geriatric Disorders , Changsha , Hunan , China.
Prion ; 13(1): 116-123, 2019 01.
Article en En | MEDLINE | ID: mdl-31122137
Background: Fatal familial insomnia (FFI) is a rare autosomal-dominant inherited prion disease characterized clinically by severe sleep disorder, motor signs, dysautonomia and abnormal behaviour. FFI is caused by a missense mutation at codon 178 of the prion protein gene (PRNP). Our study is aimed to explore typical clinical and genetic features of two Chinese pedigrees with FFI and review the related literatures. Methods: Two FFI cases with family histories were recruited in our study. The main clinical features, genetic features and possible pathophysiologic mechanisms of these two FFI cases were analysed. Results: The foremost symptoms seemed to be sleep disturbances and psychosis. Progressive sympathetic symptoms, movement disturbances and memory loss were frequently observed as well. Electroencephalography (EEG) showed a minor slowing without periodic triphasic waves. Polysomnography (PSG) showed reduction in total sleep time and disturbance of sleep-related respiratory. Brain magnetic resonance imaging (MRI) did not reveal obvious abnormality. Genetic analysis disclosed the prion protein gene mutation at codon 178 (D178N), with methionine (Met) homozygosity at the polymorphic position 129 (Met129Met). Conclusions: The major clinical features of Chinese FFI are sleep dysfunction, psychiatric symptoms and sympathetic symptoms. Our patients have similar clinical characteristics as that of the typical FFI cases.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Insomnio Familiar Fatal / Proteínas Priónicas Tipo de estudio: Etiology_studies / Observational_studies / Risk_factors_studies Límite: Adolescent / Adult / Female / Humans / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: Prion Asunto de la revista: BIOQUIMICA Año: 2019 Tipo del documento: Article País de afiliación: China Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Insomnio Familiar Fatal / Proteínas Priónicas Tipo de estudio: Etiology_studies / Observational_studies / Risk_factors_studies Límite: Adolescent / Adult / Female / Humans / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: Prion Asunto de la revista: BIOQUIMICA Año: 2019 Tipo del documento: Article País de afiliación: China Pais de publicación: Estados Unidos