一个中国家庭中NOTCH2NLC基因双等位基因GGC重复扩增导致以自主神经功能障碍为主的表型。
Autonomic dysfunction-dominant phenotype in a Chinese family with biallelic GGC repeat expansions in NOTCH2NLC.
作者信息
Chen Bin, Jing Jing, Dong Gehong, Shi Yuzhi, Zhang Cuiping, Zhang Yumei, Wang An, Tai Hongfei, Niu Songtao, Wang Xingao, Pan Hua, Zhang Zaiqiang
机构信息
Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, No.119 South 4Th Ring West Road, Fengtai District, Beijing, 100070, China.
China National Clinical Research Center for Neurological Diseases, Beijing, China.
出版信息
Neurol Sci. 2023 May;44(5):1769-1772. doi: 10.1007/s10072-023-06688-x. Epub 2023 Feb 21.
The GGC repeat expansions in the NOTCH2NLC gene are associated with multiple neurodegenerative disorders. Herein, we report the clinical phenotype in a family with biallelic GGC expansions in NOTCH2NLC. Autonomic dysfunction was a prominent clinical manifestation in three genetically confirmed patients without dementia, parkinsonism, and cerebellar ataxia for > 12 years. A 7-T brain magnetic resonance imaging in two patients revealed a change in the small cerebral veins. The biallelic GGC repeat expansions may not modify the disease progression in neuronal intranuclear inclusion disease. Autonomic dysfunction-dominant may expand the clinical phenotype of NOTCH2NLC.
NOTCH2NLC基因中的GGC重复序列扩增与多种神经退行性疾病相关。在此，我们报告了一个NOTCH2NLC基因双等位基因GGC扩增家族的临床表型。自主神经功能障碍是3例经基因确诊的患者的突出临床表现，这些患者在超过12年的时间里无痴呆、帕金森综合征和小脑共济失调。2例患者的7-T脑磁共振成像显示大脑小静脉有变化。双等位基因GGC重复序列扩增可能不会改变神经元核内包涵体病的疾病进展。以自主神经功能障碍为主可能会扩大NOTCH2NLC的临床表型。
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