Masanobu Kinoshita

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CONCLUSIONS No definite sign was found of central oculomotor system disorders being independent of saccadic slowing because (1) diminished maximum slow phase velocity of the optokinetic nystagmus (OKNspv) was closely related to saccadic slowing (p<0.01, r=0.59), (2) maximum frequency of optokinetic nystagmus (OKNfq) was normal, (3) visual suppression (VS)(More)
Myotonia manifests in several hereditary diseases, including hyperkalemic periodic paralysis (HyperPP), paramyotonia congenita (PMC), and potassium-aggravated myotonia (PAM). These are allelic disorders originating from missense mutations in the gene that codes the skeletal muscle sodium channel, Nav1.4. Moreover, a severe form of PAM has been designated as(More)
Recent studies have shown that the severity of the several clinical symptoms of myotonic dystrophy (DM) is closely related to the size of a CTG triplet repeat in the gene encoding myotonin protein kinase. Although neurotological findings, including saccadic slowing in patients with DM, have been reported, the relationship between these neurotological(More)
We examined (CTG)n lengths in various tissues from a 70-year-old man with myotonic dystrophy type 1 (DM 1) who had a small 60-70 (CTG), expansion in his leukocytes. He died of renal cell carcinoma 5 years after a total laryngectomy for laryngeal carcinoma. Southern blot and polymerase chain reaction analyses were done on tissues obtained at autopsy. In the(More)
INTRODUCTION An enlarged tongue (macroglossia) has been reported in advanced-stage patients with amyotrophic lateral sclerosis (ALS). METHODS In this study we examined the prevalence of macroglossia and analyzed clinical correlations in 65 ALS patients on tracheostomy-invasive ventilation (TIV). RESULTS Macroglossia was found in 22 patients (33.8%).(More)
Water intoxication is a life-threatening disorder accompanied by brain function impairment due to severe dilutional hyponatremia. We treated a 22-year-old man without psychotic illness who had been put in a detention facility. He drank 6 liters of water over a 3-hour period at the facility as a game's penalty, and he showed progressive psychiatric and(More)
Various animal models for pancreatitis, using large or small animal models, have been established to study pathophysiology, structure, diagnosis, and treatment of pancreatic disorders. Obstruction of the pancreatic duct is considered to play an important role in the progression of acute and chronic pancreatitis in humans. For this reason, many studies using(More)
SummaryTo study the characteristics, if any, of unstable CTG repeat sequence in Japanese myotonic dystrophy (DM), we analyzed DNA from 351 at risk individuals (including affected and non-affected carriers and their descendants) from 105 families in Japan. A total of 93 DM families (196 affected and 116 unaffected individuals), including 84 DM parentchild(More)
Myotonic dystrophy type 1 (DM1) is caused by transcription of CUG repeat RNA, which causes sequestration of muscleblind-like 1 (MBNL1) and upregulation of CUG triplet repeat RNA-binding protein (CUG-BP1). In DM1, dysregulation of these proteins contributes to many aberrant splicing events, causing various symptoms of the disorder. Here, we demonstrate the(More)