Masato Fujita

Learn More
We studied 12 patients with myotonic dystrophy using MRI and the Mini-mental state examination (MMSE), to see it specific MRI findings were associated with intellectual impairment. We also compared them with the neuropathological findings in an autopsy case of MD with intellectual impairment. Mild intellectual impairment was found in 8 of the 12 patients.(More)
We report on seven Japanese families with spinocerebellar ataxia type 6 (SCA6) carrying small CAG repeat expansions in the calcium channel alpha1A subunit gene. The number of the expanded CAG repeat, ranged from 22 to 25, showed no intergenerational instability and had a significant inverse correlation with the age of onset. The clinical features of these(More)
Progressive subcortical vascular encephalopathy (PSVE) usually occurs in elderly individuals, suffering from hypertension. We here describe a male, born of consanguineous parents, who first showed signs of PSVE at the age of 30. Despite the absence of hypertension or known metabolic causes, the degenerative cerebral vascular disease developed progressively.(More)
Brainstem auditory evoked responses (BAERs) were studied in 30 healthy subjects, 20 patients with spinocerebellar degeneration (SCD), and 6 patients with Wilson's disease. In addition to the standard 8 click per second stimulation rate, increased stimulation frequency was applied which identified wave V for its stability under different stimulation rates.(More)
BACKGROUND X-linked myotubular myopathy (XLMTM) is a severe congenital disorder characterized by marked muscle weakness and hypotonia. Myotubularin, the protein product of the causative gene, MTM1, is thought to be a phosphatase for phosphatidylinositol-3-phosphate and may be involved in membrane trafficking. Analysis of MTM1 knocked-out mice indicates that(More)
A total of 240 patients with unilateral vocal fold paralysis (UVFP) underwent transcutaneous intrafold silicone injection (TCIFSI) for the purpose of vocal rehabilitation during the period from 1983 to 1993 in the Kurume University Hospital. Their vocal function was evaluated and the effects of TCIFSI upon the vocal function were investigated. The patients(More)
A 58-year-old female presented with right conjunctival chemosis and right abducens nerve paresis. Cerebral angiography demonstrated a right carotid-cavernous sinus fistula associated with persistent primitive trigeminal artery. The fistula was treated by introducing detachable coils through the transvenous approach, as the detachable balloon was not(More)
We studied two familial cases of human T-lymphotropic virus type I (HTLV-I)-associated myelopathy from the Kii Peninsula, an area of endemic adult T-cell leukemia-lymphoma (ATLL) in Japan. Incidence of familial clustering of HTLV-I-associated myelopathy was about 20%. Type C retrovirus was isolated from cultured cerebrospinal fluid and peripheral blood(More)