To investigate whether the expansion of CAG repeats of the TATA-binding protein (TBP) gene is involved in the pathogenesis of neurodegenerative diseases, we have screened 118 patients with various forms of neurological disease and identified a sporadic-onset patient with unique neurologic symptoms consisting of ataxia and intellectual deterioration associated with de novo expansion of the CAG repeat of the TBP gene. The mutant TBP with an expanded polyglutamine stretch (63 glutamines) was demonstrated to be expressed in lymphoblastoid cell lines at a level comparable with that of wild-type TBP. The CAG repeat of the TBP gene consists of impure CAG repeat and the de novo expansion involves partial duplication of the CAG repeat. The present study provides new insights into sporadic-onset trinucleotide repeat diseases that involve de novo CAG repeat expansion.

The copper concentration was investigated in the cultured astrocytes from macular mice, an animal model of Menkes disease. An excessive amount of copper was accumulated in the astrocytes as copper-metallothionein. These results show that the underlying genetic defect of the macular mouse is expressed in the astrocytes. A similar situation may exist in Menkes disease and cause a failure of copper transport to neurones.

The P300 component of auditory event-related potential was studied in 39 patients with temporal lobe epilepsy (TLE), 26 with idiopathic generalized epilepsy (IGE) and 28 controls. The age-corrected P300 latencies were significantly longer in TLE patients compared with those in IGE patients and controls. Neither the duration of epilepsy nor clinical manifestation was related to the P300 component in the same epileptic syndrome. The age-corrected P300 latencies recorded from Cz were significantly prolonged in TLE patients with bilateral temporal EEG foci compared with those with unilateral focus. The effects of anti-epileptic drugs on the P300 component were not significant. Our findings imply that prolonged P300 latency in TLE patients, especially in those with bilateral EEG foci is due to damage of the hippocampus, which is potentially an epileptogenic focus.

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Progressive dementia had developed since the age of 55 in a male patient, who had worked as an aluminum refiner for 30 years. Balint's syndrome was observed from at 60 and he died of bronchopneumonia at 65. Neuropathological examination revealed characteristic features of Alzheimer's disease with marked atrophy of the occipito-temporal lobes and senile plaques of the cerebellum. Wavelength-dispersive X-ray microanalysis disclosed focal aluminum accumulation within the nucleus and cytoplasm of the tangle-bearing neurons. Microanalysis by the same method failed to disclose aluminum accumulation in the tangle-bearing neurons in a case of senile dementia of Alzheimer's type who had no possible inhalation of aluminum.

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A method to purify glial fibrillary acidic protein (GFAP) from mouse spinal cord is described, which permits the measurement of GFAP in the sciatic nerve of the twitcher mutant and control mouse. Cytoskeletal proteins from sciatic nerves and purified GFAP standards were electrophoresed on gel, transferred to nitrocellulose paper, and immunostained with anti-GFAP antibody. From the immunostained, 51,000-dalton band, we estimated about 200 ng GFAP per 50 micrograms of cytoskeletal protein in the twitcher sciatic nerve. The control nerve showed no detectable GFAP. Double-labeled fluorescence immunocytochemistry showed that in the brainstem of twitcher mutant, GFAP and vimentin were coexpressed in the majority of astrocytes.