Toshihiro Fukusako

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We report a family showing an early-onset benign autosomal dominant limb-girdle myopathy with contractures. The clinical features in our family included; 1) slowly progressive limb-girdle muscle weakness since childhood. 2) contractures of fingers, elbows and ankles, 3) mild motor impairment with preserved activities of daily living. The disease was(More)
OBJECTIVES To determine the frequency, distribution, and clinical features of Parkinson disease (PD) with PINK1 mutations. DESIGN Retrospective clinical and genetic review. SETTING University hospital. PATIENTS We performed extensive mutation analyses of PINK1 in 414 PD patients negative for parkin mutations (mean [SD] age at onset, 42.8 [14.3](More)
A 40-year-old woman was admitted to our hospital with disorientation, delusional idea, and sensory disturbance of lower face after having a fever and cough for 5 days. A chest X-ray examination revealed an infiltration in the left lower lobe field. Psittacosis was diagnosed because the serum antibody titer against chlamydia psittaci was elevated.(More)
A 63-year-old woman was admitted to the hospital because of swelling of both forearms and muscle weakness in the limbs. Laboratory examination revealed abnormally high levels of serum creatine kinase, glutamic-oxaloacetic transaminase, glutamic-pyruvic transaminase, and lactate dehydrogenase. Polymyositis was diagnosed, and prednisolone was administered.(More)
A 39-year-old man was admitted to our hospital because of atrophy of the right side of the tongue of 6 years' duration. Neurological examination showed atrophy and fasciculations in the right side of the tongue. Magnetic resonance imaging showed atrophy and high signal intensity areas on T1 and T2 weighted images in the right masseter, temporal, lateral and(More)
We reported an 18-year-old woman with anorexia nervosa and liver damage who showed carnitine deficiency. Her unbalanced diet had little carnitine, and severely damaged liver could not synthesize carnitine. Since total parenteral nutrition (TPN) and tube-feed formulas contain little or no carnitine, the patient had progressive weakness and muscle atrophy.(More)
A 51-year-old woman was admitted to our hospital because of gait disturbance and dysuria. Neurological examination revealed limb and truncal ataxia, orthostatic hypotension, cogwheel rigidity in all limbs, generalized hyperreflexia without pathological reflex, and horizontal gaze nystagmus. She became progressively worse and bedridden at age 52. Then she(More)