Altered Local Brain Amplitude of Fluctuations in Patients With Myotonic Dystrophy Type 1

Pei Huang; Xing-Hua Luan; Zhou Xie; Meng-Ting Li; Sheng-Di Chen; Jun Liu; Xi-Ze Jia; Li Cao; Hai-Yan Zhou

doi:10.3389/fnagi.2021.790632

Altered Local Brain Amplitude of Fluctuations in Patients With Myotonic Dystrophy Type 1

Front Aging Neurosci. 2021 Dec 10:13:790632. doi: 10.3389/fnagi.2021.790632. eCollection 2021.

Authors

Pei Huang¹, Xing-Hua Luan^{1

2}, Zhou Xie³, Meng-Ting Li⁴, Sheng-Di Chen¹, Jun Liu¹, Xi-Ze Jia⁴, Li Cao^{1

2}, Hai-Yan Zhou¹

Affiliations

¹ Department of Neurology and Institute of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
² Department of Neurology, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China.
³ School of Information and Electronics Technology, Jiamusi University, Jiamusi, China.
⁴ Key Laboratory of Intelligent Education Technology and Application of Zhejiang Province, Zhejiang Normal University, Jinhua, China.

Abstract

This study is aimed at investigating the characteristics of the spontaneous brain activity in patients with myotonic dystrophy type 1 (DM1). A total of 18 patients with DM1 and 18 healthy controls (HCs) were examined by resting-state functional MRI. Combined methods include amplitude of low-frequency fluctuations (ALFFs), the fractional amplitude of low-frequency fluctuations (fALFFs), and Wavelet transform-based ALFFs (Wavelet-ALFFs) with standardization, percent amplitude of fluctuation (PerAF) with/without standardization were applied to evaluate the spontaneous brain activity of patients with DM1. Compared with HCs, patients with DM1 showed decreased ALFFs and Wavelet-ALFFs in the bilateral precuneus (PCUN), angular gyrus (ANG), inferior parietal, but supramarginal and angular gyri (IPL), posterior cingulate gyrus (PCG), superior frontal gyrus, medial (SFGmed), middle occipital gyrus (MOG), which were mainly distributed in the brain regions of default mode network (DMN). Decreased ALFFs and Wavelet-ALFFs were also seen in bilateral middle frontal gyrus (MFG), inferior frontal gyrus, opercular part (IFGoperc), which were the main components of the executive control network (ECN). Patients with DM1 also showed decreased fALFFs in SFGmed.R, the right anterior cingulate and paracingulate gyri (ACGR), bilateral MFG. Reduced PerAF in bilateral PCUN, ANG, PCG, MOG, and IPLL as well as decreased PerAF without standardization in PCUNR and bilateral PCG also existed in patients with DM1. In conclusion, patients with DM1 had decreased activity in DMN and ECN with increased fluctuations in the temporal cortex and cerebellum. Decreased brain activity in DMN was the most repeatable and reliable with PCUN and PCG being the most specific imaging biomarker of brain dysfunction in patients with DM1.

Keywords: amplitude of low-frequency fluctuations; local brain function; myotonic dystrophy type 1; resting-state functional MRI; spontaneous brain activity.