title: Muscle pathology in Marinesco-Sjögren syndrome.
abstract: Three of 4 adult patients with Marinesco-Sjögren syndrome (MSS; 2 males and 2 females, aged 26-31 years) in 2 families became non-ambulant because of slowly progressive muscular weakness rather than cerebellar ataxia. Other clinical features in these 4 patients were typical for MSS: bilateral cataracts from infancy, mental retardation, severe cerebellar atrophy, multiple skeletal abnormalities and hypergonadotropic hypogonadism. EMG demonstrated a myopathic pattern and serum CK was mildly elevated. Muscle biopsies from these 3 patients showed myopathic changes including a marked variation in fiber size, an increased number of fibers with centralized nuclei, and scattered necrotic and regenerating fibers. Fiber type analysis with myosin ATPase staining showed type 1 fiber predominance, type 2B fiber deficiency and mild increase in type 2C fibers. Muscle biopsy changes and the clinical course indicate that our MSS patients suffered from a chronic dystrophic process similar to that in congenital muscular dystrophy.
authors.affiliation: Department of Neurology, Chiba University School of Medicine, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Komiyama
authors.forename: I
authors.initials: I
authors.lastname: Nonaka
authors.forename: K
authors.initials: K
authors.lastname: Hirayama
mesh_terms: D000251:Adenosine Triphosphatases / Q000378:metabolism; D000328:Adult; D005260:Female; D006651:Histocytochemistry; D006801:Humans; D008297:Male; D009132:Muscles / Q000201:enzymology / Q000473:pathology*; D009246:NADH Tetrazolium Reductase / Q000378:metabolism; D013132:Spinocerebellar Degenerations / Q000201:enzymology / Q000235:genetics / Q000473:pathology*
chemical_list: D009246:NADH Tetrazolium Reductase; D000251:Adenosine Triphosphatases