Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China.
J Neurol Neurosurg Psychiatry. 2022 Dec;93(12):1289-1298. doi: 10.1136/jnnp-2022-329772. Epub 2022 Sep 23.
Abnormal expanded GGC repeats within the 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 -related NIID in China.
Patients with -related NIID underwent an evaluation of clinical symptoms, a neuropsychological assessment, electrophysiological examination, MRI and skin biopsy.
In the 247 patients with -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 -related NIID.
异常扩展的 GGC 重复已被确认为大多数亚洲神经元核内包涵体病（NIID）患者的遗传机制。本横断面观察性研究旨在描述中国 -相关 NIID 的临床特征。
对 -相关 NIID 患者进行临床症状评估、神经心理学评估、电生理检查、MRI 和皮肤活检。
在 247 例 -相关 NIID 患者中，149 例为散发性，98 例有阳性家族史。最常见的表现为阵发性症状（66.8%）、自主神经功能障碍（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 分为四组：痴呆型（n=94）、运动障碍型（n=63）、阵发性症状型（n=61）和肌无力型（n=29）。所有类型均常见临床（42.7%）和亚临床（49.1%）周围神经病。具有痴呆（93.9%）和阵发性症状型（94.9%）的患者比具有肌无力（50.0%）和运动障碍型（86.4%）的患者更常出现典型的弥散加权成像皮质下花边征。GGC 重复大小与发病年龄呈负相关（r=-0.196，p<0.05），在以肌无力为主型（中位数 155.00）中，重复数明显高于其他三组（p<0.05）。在 NIID 家系中，观察到明显的遗传预期（p<0.05），但在传递过程中无重复不稳定性（p=0.454）。
NIID 并不罕见，但常被误诊为其他疾病。我们的结果有助于扩展已知的 -相关 NIID 临床谱。
