Autonomic dysfunction-dominant phenotype in a Chinese family with biallelic GGC repeat expansions in NOTCH2NLC

被引：0

作者：

Chen, Bin ^{[1
,2
]}

Jing, Jing ^{[1
,2
,3
]}

Dong, Gehong ^{[4
]}

Shi, Yuzhi ^{[1
,2
]}

Zhang, Cuiping ^{[5
]}

Zhang, Yumei ^{[2
,6
]}

Wang, An ^{[1
,2
]}

Tai, Hongfei ^{[1
,2
]}

Niu, Songtao ^{[1
,2
]}

Wang, Xingao ^{[1
,2
]}

Pan, Hua ^{[1
,2
]}

Zhang, Zaiqiang ^{[1
,2
]}

机构：

[1] Capital Med Univ, Beijing Tiantan Hosp, Dept Neurol, 119 South 4Th Ring West Rd, Beijing 100070, Peoples R China

[2] China Natl Clin Res Ctr Neurol Dis, Beijing, Peoples R China

[3] Tiantan Nenroimaging Ctr Excellence, Beijing, Peoples R China

[4] Capital Med Univ, Beijing Tiantan Hosp, Dept Pathol, Beijing, Peoples R China

[5] Capital Med Univ, Beijing Tiantan Hosp, Dept Ultrastruct Pathol, Beijing, Peoples R China

[6] Capital Med Univ, Beijing Tiantan Hosp, Monogenic Dis Res Ctr Neurol Disorders, Beijing, Peoples R China

来源：

NEUROLOGICAL SCIENCES | 2023年 / 44卷 / 05期

关键词：

Neuronal intranuclear inclusion disease; NOTCH2NLC; Biallelic GGC repeat expansions; Autonomic dysfunction; Deep medullary veins;

D O I：

10.1007/s10072-023-06688-x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：1769 / 1772

页数：4

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