CADASIL‐like leukodystrophy and symptomatic cerebral infarction in myotonic dystrophy type 1

• Published in: CNS neuroscience & therapeutics Vol. 28; no. 10; pp. 1655 - 1657
• Main Authors: Liu, Bin, Yang, Chun‐Lin, Li, Xiao‐Li, Zhang, Min, Li, Yan‐Bin, Duan, Rui‐Sheng
• Format: Journal Article
• Language: English
• Published: Oxford John Wiley & Sons, Inc 01.10.2022; John Wiley and Sons Inc
• Subjects: Alopecia; Arteriosclerosis; Atrophy; Baldness; Basal ganglia; CADASL; Cerebral infarction; DMPK protein; Fibrillation; Hyperglycemia; Hypertension; Hypertriglyceridemia; Ischemia; ischemic stroke; Letter to the Editor; Letters to the Editor; Leukodystrophy; Leukoencephalopathy; Magnetic resonance imaging; MRI; Myotonic dystrophy; myotonic dystrophy type 1; Neuroimaging; Notch3 protein; Patients; Stroke; Substantia alba
• ISSN: 1755-5930; 1755-5949; 1755-5949
• DOI: 10.1111/cns.13908

Among these, brain atrophy and the number of incident lacunes are sensitive MRI markers that could predict clinical worsening in CADASIL. 4 Following a study by Kim et al. in 2018, frontal and parieto-occipital lobes, external capsule, and basal ganglia were involved to a lesser extent in DM1 than in CADASIL. The prevalence of stroke was also less common in DM1 than in CADASIL. 5 Ischemic stroke in patients with myotonic dystrophy type 1 is mainly associated with atrial fibrillation and arteriosclerosis. 6 Hypertriglyceridemia, hypertension, and hyperglycemia were very common in DM1 patients, 7 and severe arteriosclerosis was reported in myotonic dystrophy. 8 This patient has a stroke syndrome and neuroimaging findings consistent with arteriosclerosis. DM1 is caused by an unstable expanded CTG repeats in the noncoding regions of DMPK gene. 9 CADASIL is usually caused by NOTCH3 gene mutations, which provide another biomarker for the differentiation between DM1 and CADASIL. 10 TABLE 1 Brain MRI characteristics in patients with DM1 or CADASIL DM1 CADASIL White matter changes Total Common (over 60%) Very common (over 90%) Frontal Common (over 30%) Very common (over 90%) Parieto-occipital Common (over 50%) Very common (over 90%) Anterior temporal Common (approximately one-third) Common (over 50%) External capsule Rare (about 10%) Very common (over 80%) Basal ganglia Very rare Common (over 60%) Stroke Rare (about 10%) Very common (over 70%) Presence of microbleeds Very rare Common (over 60%) Abbreviations: CADASIL, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; DM1, myotonic dystrophy type 1.