Clinical features of NOTCH2NLC-related neuronal intranuclear inclusion disease.
Clinical features of NOTCH2NLC-related neuronal intranuclear inclusion disease.
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DOI：
10.1136/jnnp-2022-329772
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发表时间：
2022-12
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NOTCH2HLC 基因内异常扩增的 GGC 重复序列已被证实是大多数亚洲神经元核内包涵体病 (NIID) 患者的遗传机制。这项横断面观察性研究旨在描述中国 NOTCH2NLC 相关 NIID 的临床特征。 NOTCH2NLC 相关 NIID 患者接受了临床症状评估、神经心理学评估、电生理检查、MRI 和皮肤活检。 247例NOTCH2NLC相关NIID患者中，149例为散发型，98例有阳性家族史。最常见的表现是阵发性症状（66.8%）、植物神经功能障碍（64.0%）、运动障碍（50.2%）、认知障碍（49.4%）和肌无力（30.8%）。根据初始表现和主要症状，NIID分为四个亚组：痴呆为主（n=94）、运动障碍为主（n=63）、阵发性症状为主（n=61）和肌无力为主（n=29）。临床（42.7%）和亚临床（49.1%）周围神经病变在所有类型中都很常见。典型的弥散加权成像皮质下系带征在痴呆症（93.9%）和阵发性症状类型（94.9%）患者中比肌无力（50.0%）和运动障碍类型（86.4%）患者更常见。 GGC重复大小与发病年龄呈负相关（r=-0.196，p<0.05），并且在肌无力主导型（中位数155.00）中，重复次数远高于其他三组（p<0.05）。在 NIID 谱系中，观察到显着的遗传预期 (p<0.05)，在传播过程中没有重复不稳定 (p=0.454)。 NIID 并不罕见；然而，它通常被误诊为其他疾病。我们的结果有助于扩展 NOTCH2NLC 相关 NIID 的已知临床谱。
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. Patients with NOTCH2NLC-related NIID underwent an evaluation of clinical symptoms, a neuropsychological assessment, electrophysiological examination, MRI and skin biopsy. 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. 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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影响因子：
4.4
作者：
Nakamura N;Tsunoda K;Mitsutake A;Shibata S;Mano T;Nagashima Y;Ishiura H;Iwata A;Toda T;Tsuji S;Sawamura H
通讯作者：
Sawamura H
影响因子：
3.3
作者：
ORR, HT
通讯作者：
ORR, HT
重新定义神经元核内包涵体病的临床病理学谱。
影响因子：
5.3
作者：
Chen H;Lu L;Wang B;Cui G;Wang X;Wang Y;Raza HK;Min Y;Li K;Cui Y;Miao Z;Wan B;Sun M;Xu X
通讯作者：
Xu X
影响因子：
81.5
作者：
Hagerman, Randi J.;Berry-Kravis, Elizabeth;Hagerman, Paul J.
通讯作者：
Hagerman, Paul J.
影响因子：
7.1
作者：
Ogasawara M;Iida A;Kumutpongpanich T;Ozaki A;Oya Y;Konishi H;Nakamura A;Abe R;Takai H;Hanajima R;Doi H;Tanaka F;Nakamura H;Nonaka I;Wang Z;Hayashi S;Noguchi S;Nishino I
通讯作者：
Nishino I