Characteristics of autonomic dysfunction in neuronal intranuclear inclusion disease

Lu Zhou; Yun Tian; Sizhe Zhang; Bin Jiao; Xinxin Liao; Yafang Zhou; Qiao Xiao; Jin Xue; Ranhui Duan; Beisha Tang; Lu Shen

doi:10.3389/fneur.2023.1168904

Characteristics of autonomic dysfunction in neuronal intranuclear inclusion disease

Front Neurol. 2023 Jun 14:14:1168904. doi: 10.3389/fneur.2023.1168904. eCollection 2023.

Authors

Lu Zhou¹, Yun Tian^{1

2

3}, Sizhe Zhang¹, Bin Jiao^{1

3

4}, Xinxin Liao², Yafang Zhou², Qiao Xiao⁵, Jin Xue⁵, Ranhui Duan⁵, Beisha Tang^{1

3

4

6}, Lu Shen^{1

3

4

6

7

8}

Affiliations

¹ Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
² Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China.
³ National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, Hunan, China.
⁴ Engineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Changsha, Hunan, China.
⁵ School of Life Sciences, Central South University, Changsha, Hunan, China.
⁶ Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, China.
⁷ Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, Hunan, China.
⁸ Key Laboratory of Organ Injury, Aging and Regenerative Medicine of Hunan Province, Changsha, China.

Abstract

Background: This study aimed to investigate the features of autonomic dysfunction (AutD) in a large cohort of patients with neuronal intranuclear inclusion disease (NIID).

Methods: A total of 122 patients with NIID and 122 controls were enrolled. All participants completed the Scales for Outcomes in Parkinson's Disease-Autonomic Questionnaire (SCOPA-AUT) and genetic screening for GGC expanded repeats within the NOTCH2NLC gene. All patients underwent neuropsychological and clinical assessments. SCOPA-AUT was performed to compare AutD between patients and controls. The associations between AutD and disease-related characteristics of NIID were studied.

Results: 94.26% of patients had AutD. Compared with controls, patients had more severe AutD in total SCOPA-AUT, gastrointestinal, urinary, cardiovascular, thermoregulatory, pupillomotor and sexual domains (all p < 0.05). The area under the curve (AUC) value for the total SCOPA-AUT (AUC = 0.846, sensitivity = 69.7%, specificity = 85.2%, cutoff value = 4.5) was high in differentiating AtuD of patients with NIID from controls. The total SCOPA-AUT was significantly and positively associated with age (r = 0.185, p = 0.041), disease duration (r = 0.207, p = 0.022), Neuropsychiatric Inventory (NPI) (r = 0.446, p < 0.01), and Activities of Daily Living (ADL) (r = 0.390, p < 0.01). Patients with onset-of-AutD had higher SCOPA-AUT scores than patients without onset-of-AutD (p < 0.001), especially in the urinary system (p < 0.001) and male sexual dysfunction (p < 0.05).

Conclusion: SCOPA-AUT can be used as a diagnostic and quantitative tool for autonomic dysfunction in NIID. The high prevalence of AutD in patients suggests that NIID diagnosis should be considered in patients with AutD, especially in those with unexplained AutD alone. AutD in patients is related to age, disease duration, impairment of daily living ability, and psychiatric symptoms.

Keywords: SCOPA-AUT; assessment; autonomic dysfunction; autonomic symptoms; neuronal intranuclear inclusion disease.