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Clinical features of NOTCH2NLC-related neuronal intranuclear inclusion disease.
Tian, Yun; Zhou, Lu; Gao, Jing; Jiao, Bin; Zhang, Sizhe; Xiao, Qiao; Xue, Jin; Wang, Ying; Liang, Hui; Liu, Yaling; Ji, Guang; Mao, Chenhui; Liu, Caiyan; Dong, Liling; Zhang, Long; Zhang, Shugang; Yi, Jiping; Zhao, Guohua; Luo, Yingying; Sun, Qiying; Zhou, Yafang; Yi, Fang; Chen, Xiaoyu; Zhou, Chaojun; Xie, Nina; Luo, Mengchuan; Yao, Lingyan; Hu, Yacen; Zhang, Mengqi; Zeng, Qiuming; Fang, Liangjuan; Long, Hong-Yu; Xie, Yuanyuan; Weng, Ling; Chen, Si; Du, Juan; Xu, Qian; Feng, Li; Huang, Qing; Hou, Xuan; Wang, Junpu; Xie, Bin; Zhou, Lin; Long, Lili; Guo, Ji-Feng; Wang, Junling; Yan, Xinxiang; Jiang, Hong; Xu, Hongwei; Duan, Ranhui.
Afiliación
  • Tian Y; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Zhou L; Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Gao J; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, China.
  • Jiao B; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Zhang S; Department of Neurology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science/ Peking Union Medical College Hospital, Beijing, China.
  • Xiao Q; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Xue J; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, China.
  • Wang Y; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Liang H; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
  • Liu Y; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
  • Ji G; Department of Pathology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Mao C; Department of Neurology, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
  • Liu C; Department of Neurology, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.
  • Dong L; Department of Neurology, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.
  • Zhang L; Department of Neurology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science/ Peking Union Medical College Hospital, Beijing, China.
  • Zhang S; Department of Neurology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science/ Peking Union Medical College Hospital, Beijing, China.
  • Yi J; Department of Neurology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science/ Peking Union Medical College Hospital, Beijing, China.
  • Zhao G; Department of Neurology, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China.
  • Luo Y; Department of Neurology, Affiliated Nanjing Brain Hospital, Nanjing Medical University, Nanjing, Jiangsu, China.
  • Sun Q; Department of Neurology, The First Affiliated Hospital of Xiangnan University, Chenzhou, Hunan, China.
  • Zhou Y; Department of Neurology, The Fourth Affiliated Hospital, Zhejiang University School of Medicine, Yiwu, Zhejiang, China.
  • Yi F; Department of Neurology, Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Chen X; Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Zhou C; Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Xie N; Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Luo M; Department of Neurosurgery, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Yao L; Department of Neurology, The First People's Hospital of Changde City, Changde, Hunan, China.
  • Hu Y; Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Zhang M; Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Zeng Q; Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Fang L; Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Long HY; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Xie Y; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Weng L; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Chen S; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Du J; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Xu Q; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Feng L; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Huang Q; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Hou X; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Wang J; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Xie B; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Zhou L; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Long L; Department of Pathology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Guo JF; Department of Pathology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Wang J; Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Yan X; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Jiang H; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Xu H; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, China.
  • Duan R; Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, Hunan, China.
J Neurol Neurosurg Psychiatry ; 93(12): 1289-1298, 2022 12.
Article en En | MEDLINE | ID: mdl-36150844
BACKGROUND: Abnormal expanded GGC repeats within the NOTCH2HLC gene has been confirmed as the genetic mechanism for most Asian patients with neuronal intranuclear inclusion disease (NIID). This cross-sectional observational study aimed to characterise the clinical features of NOTCH2NLC-related NIID in China. METHODS: Patients with NOTCH2NLC-related NIID underwent an evaluation of clinical symptoms, a neuropsychological assessment, electrophysiological examination, MRI and skin biopsy. RESULTS: In the 247 patients with NOTCH2NLC-related NIID, 149 cases were sporadic, while 98 had a positive family history. The most common manifestations were paroxysmal symptoms (66.8%), autonomic dysfunction (64.0%), movement disorders (50.2%), cognitive impairment (49.4%) and muscle weakness (30.8%). Based on the initial presentation and main symptomology, NIID was divided into four subgroups: dementia dominant (n=94), movement disorder dominant (n=63), paroxysmal symptom dominant (n=61) and muscle weakness dominant (n=29). Clinical (42.7%) and subclinical (49.1%) peripheral neuropathies were common in all types. Typical diffusion-weighted imaging subcortical lace signs were more frequent in patients with dementia (93.9%) and paroxysmal symptoms types (94.9%) than in those with muscle weakness (50.0%) and movement disorders types (86.4%). GGC repeat sizes were negatively correlated with age of onset (r=-0.196, p<0.05), and in the muscle weakness-dominant type (median 155.00), the number of repeats was much higher than in the other three groups (p<0.05). In NIID pedigrees, significant genetic anticipation was observed (p<0.05) without repeat instability (p=0.454) during transmission. CONCLUSIONS: NIID is not rare; however, it is usually misdiagnosed as other diseases. Our results help to extend the known clinical spectrum of NOTCH2NLC-related NIID.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades del Sistema Nervioso Periférico / Demencia / Trastornos del Movimiento Tipo de estudio: Observational_studies / Prevalence_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: J Neurol Neurosurg Psychiatry Año: 2022 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades del Sistema Nervioso Periférico / Demencia / Trastornos del Movimiento Tipo de estudio: Observational_studies / Prevalence_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: J Neurol Neurosurg Psychiatry Año: 2022 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido