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.
Highlights
Myotonic dystrophy type 1 (DM1) is an autosomal dominant hereditary disease caused by the expansion of the cytosine thymine guanine triplet repeats within the myotonic dystrophy protein of the kinase (DMPK) gene
A total of 18 patients with myotonic dystrophy type 1 (DM1) and 18 healthy control (HC) were enrolled in the study, while 2 patients with DM1 were excluded because of head motion. 16 patients with DM1 and 18 HCs were included into the final analysis
They were matched in age (p = 0.114), gender (p = 0.510), and education (p = 0.121), but patients with DM1 showed significantly lower score in Mini-Mental State Examination (MMSE) (p < 0.001) and higher score in Hamilton Depression Scale17 (HAMD-17) (p < 0.001) than HCs (Table 1)
Summary
Myotonic dystrophy type 1 (DM1) is an autosomal dominant hereditary disease caused by the expansion of the cytosine thymine guanine triplet repeats within the myotonic dystrophy protein of the kinase (DMPK) gene. Local Brain Fluctuations in DM1 at any age but is typically diagnosed in adults with many different ways of presentation, such as facial and distal muscle weakness, along with grip myotonia It was primarily recognized as a disease-affecting muscular function, whereas many patients experienced multiple symptoms including cognitive impairment, apathy, sleep disorders, and behavioral disturbances (Theadom et al, 2014; Okkersen et al, 2017a). Frontal disconnection and increased parietal-cerebellar connectivity were identified in the brains of the patients (Serra et al, 2016a,b; Cabada et al, 2017; Sugiyama et al, 2017; Yoo et al, 2017) Even with such widespread white matter lesions and brain atrophy, some general cognitive function of patients with DM1 were still preserved (Gaul et al, 2006). It indicates that structural measurements are not able to accurately reflect the changes of the brain function, investigation of brain functional changes in patients with DM1 is urgent
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