Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.

Objective And Methods: Dysferlin encoded by DYSF deficiency leads to two main phenotypes, limb girdle muscular dystrophy (LGMD) 2B and Miyoshi myopathy. To reveal in detail the mutational and clinical features of LGMD2B in Japan, we observed 40 Japanese patients in 36 families with LGMD2B in whom dysferlin mutations were confirmed.

Results And Conclusions: Three mutations (c.

Clinicopathological features of acute autonomic and sensory neuropathy.

Acute autonomic and sensory neuropathy is a rare disorder that has been only anecdotally reported. We characterized the clinical, electrophysiological, pathological and prognostic features of 21 patients with acute autonomic and sensory neuropathy. An antecedent event, mostly an upper respiratory tract or gastrointestinal tract infection, was reported in two-thirds of patients.

Distinct characteristics of amyloid deposits in early- and late-onset transthyretin Val30Met familial amyloid polyneuropathy.

Late-onset transthyretin Val30Met-associated familial amyloid polyneuropathy (FAP ATTR Val30Met) cases unrelated to endemic foci in Japan show different clinicopathological features from the conventional early-onset cases in endemic foci. We compared the characteristics of amyloid deposits in early-onset FAP ATTR Val30Met cases in endemic foci and late-onset cases in non-endemic areas. Amyloid deposits in three early-onset cases from endemic foci and five late-onset cases from non-endemic areas were systematically examined post-mortem.

[Clinical features and course of 5 cases with HIV encephalopathy].

Clinical features and courses of 5 cases with HIV encephalopathy were reported. The subjects were among the patients registered as HIV patients at the Nagoya Medical Center, between 1996 and 2005. There were 458 patients with HIV infection including 127 cases of AIDS.

Nationwide survey of juvenile muscular atrophy of distal upper extremity (Hirayama disease) in Japan.

Juvenile muscular atrophy of the distal upper extremity (JMADUE, Hirayama disease) was first reported in 1959 as 'juvenile muscular atrophy of unilateral upper extremity'. Since then, similar patients in their teens or 20s have been described, under a variety of names, not only in Japan, but also in other Asian countries, as well as Europe and North America. Biomechanical abnormalities associated with JMADUE have recently been reported through various imaging examinations, proposing its disease mechanism.

Widespread active inflammatory lesions in a case of HTLV-I-associated myelopathy lasting 29 years.

An autopsy case of human T-lymphotropic virus type I (HTLV-I)-associated myelopathy (HAM) of 29 years' duration is reported. The patient had no history of surgery or blood transfusion and likely contracted HTLV-I sexually while traveling in an endemic area. At age 45, the patient began to experience gait disturbance; he later developed spastic tetraparesis.

[Excessive daytime sleepiness and low CSF orexin-A/hypocretin-I levels in a patient with probable progressive supranuclear palsy].

We report a 74-year-old woman with excessive daytime sleepiness (EDS) who were diagnosed as probable progressive supranuclear palsy (PSP). Her EDS mimicked narcolepsy without cataplexy, because multiple sleep latency tests showed short latencies, human leukocyte antigen testing was positive for DR2/DQB1, and orexin A (hypocretin-I) concentration in her cerebrospinal fluid was undetectable. In PSP, neurofibrillary tangles appears in the hypothalamus, neuronal loss and gliosis are seen in a number of pontine and mesencephalic tegmental nuclei, substantia nigra, locus caeruleus.

Clinical study of FK506 in patients with myasthenia gravis.

To investigate the usefulness of low-dose FK506 for the treatment of myasthenia gravis (MG), we treated 19 patients with generalized MG in a 16-week open clinical trial of FK506 (3-5 mg/day). At the end of the trial, total MG scores (range: 0-27 points) improved by 3 points or more in 7 of 19 patients (37%), and activities of daily living (ADL) scores (range: 0-6 points) also improved by 1 point or more in 8 of 19 patients (42%). Nine of 19 patients (47%) showed improvement in either MG or ADL scores.

Failure to detect Epstein-Barr virus (EBV) DNA in plasma by real-time PCR in a case of EBV-associated posttransplantation lymphoproliferative disorder confined to the central nervous system.

We report here a patient who developed multiple central nervous system (CNS) space-occupying lesions 6 months after bone marrow transplantation from an HLA-matched unrelated donor. He had extensive chronic graft-versus-host disease and severe thrombocytopenia. Posttransplantation lymphoproliferative disorder (PTLD) was diagnosed after biopsy of the lesion was facilitated by the transfusion of 40 units of platelets.

Progression and prognosis in multiple system atrophy: an analysis of 230 Japanese patients.

We investigated the disease progression and survival in 230 Japanese patients with multiple system atrophy (MSA; 131 men, 99 women; 208 probable MSA, 22 definite; mean age at onset, 55.4 years). Cerebellar dysfunction (multiple system atrophy-cerebellar; MSA-C) predominated in 155 patients, and parkinsonism (multiple system atrophy-parkinsonian; MSA-P) in 75.