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1. Sushi repeat-containing protein 1: a novel disease-associated molecule in cerebral amyloid angiopathy Abstract Sporadic cerebral amyloid angiopathy (CAA) is characterized by cerebrovascular amyloid beta (Aβ) deposits and causes cerebral hemorrhage and dementia. The exact molecules that co-accumulate with cerebrovascular Aβ deposits are still not fully known. In our study here, we performed proteomic analyses with microdissected leptomeningeal arteries and cerebral neocortical arterioles...
2. Cognition and gray and white matter characteristics of presymptomatic C9orf72 repeat expansion Objective: To investigate cognitive function, gray matter volume, and white matter integrity in the presymptomatic stage of chromosome 9 open reading frame 72 repeat expansion (C9orf72RE). Methods: Presymptomatic C9orf72RE carriers (n = 18) and first-degree family members without a pathogenic expansion (healthy controls [HC], n = 15) underwent a standardized...
3. Cardiac diastolic dysfunction correlates with the CTG trinucleotide repeat length in ambulatory myotonic dystrophy 1 Myotonic dystrophy type 1 (DM1) is a multisystemic neuromuscular disease and cardiac involvement occurs in 80% of DM1 and it is the most common cause of sudden death. Few studies have illustrated cardiac involvements constituting of left ventricular tachycardia, ventricular fibrillation, conduction defects and arrhythmia. The aim of our study...
4. The coexistence of eight D4Z4 repeat units and FAT1 mutation in facioscapulohumeral muscular dystrophy Facioscapulohumeral muscular dystrophy (FSHD) is a common muscular dystrophy characterized by an asymmetric descending progression starting in the face and shoulder-girdle muscles. Here, we present a Korean FSHD patient with eight D4Z4 repeat units and FAT1 mutation. A 59-year-old woman visited our neurologic clinic due to progressive shoulder girdle muscles...