Y Sawaishi

..A timely assessment and appropriate choice of treatment, including surgical intervention when indicated, are key to improving the outcome of affected patients...

..Positron emission tomography with 18F-fluorodeoxyglucose demonstrated hypometabolism in the frontal white matter corresponding to the areas with leukodystrophy. However, the overlying gray matter preserved normal glucose metabolism...

..The series of migratory legions, each of which was connected by axonal pathways originating from the substantia nigra, suggests axonal spread of the SSPE virus...

..Except for a few mutations, no clear phenotype-genotype correlation has been established for Alexander disease, although male preponderance in the infantile type suggests that phenotypes may be partly affected by gender...

..This is the first report detecting a hippocampal lesion by 3 T MRI, which could not be found by conventional 1.5 T MRI...

..The authors discuss similar molecular mechanisms in another intermediate filament disease and propose a possible molecular pathogenesis in juvenile Alexander disease...

..This report shows that CPC can develop exophytically in the subarachnoid space as well as in the ventricle simultaneously before appearance of clinical symptoms and confirms the importance of extensive neuroimaging in its evaluation...

..In this study, we measured CSF hypocretin-1 levels in various age ranges from infants to elder people to investigate the age-dependent change of hypocretin concentrations...

..Repeatedly all the abnormal findings improved in a lidocaine-dependent manner. Given the pharmacologic mechanisms of lidocaine as a sodium channel blocker, we speculate that our patient had a sodium channel dysfunction...

..The features of nocturnal sleep and EDS in symptomatic hypersomnia are more similar to idiopathic hypersomnia than to narcolepsy...

..Early diagnosis and appropriate treatments should improve the prognosis of carbamazepine intoxication...

..These results suggest that laminin B2 is not effective in enhancing the efficiency of gene transfection for non-proliferating myotubes. A specific antibody for surface antigen other than laminin B2 should be chosen in further studies...

..Fluctuation of CT findings in white matter may reflect blood-brain barrier dysfunction in Alexander's disease...

..To elucidate the genotype-phenotype correlation in Alexander's disease, molecular diagnosis and MRI examination are required for many patients and their families...

..Further investigation including the analysis of promoter region of P2 protein gene is needed to elucidate the mechanism of congenital hypomyelination neuropathy...

..386T>A (L129X) in a familial case of symphalangism, and a g.58delC (frameshift) in a family with multiple synostosis syndrome. Characteristic genotype-phenotype correlations have not been recognized from the mutations in the NOG gene...

..Juvenile Alexander disease was diagnosed by genetic analysis, which detected a novel GFAP mutation, D360V. We also describe our clinical success in treating this patient with thyrotropin releasing hormone (TRH)...

..Therefore, the high frequency of the R1070X mutation among the Japanese population is not likely the consequence of a founder effect, but probably a result of a mutation hot spot...

..We performed a nationwide survey of RE to assess the clinical picture, treatment effect, and prognosis of Japanese RE patients...

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..Intraventricular ribavirin therapy should be pursued further for its potential use for patients with SSPE and might be applied in the treatment of patients with encephalitis caused by other RNA viruses...

..Mutations lacking the carboxyl-terminal acidic domain may show loss-of-function effects and cause severe demyelinating CMT...

..Our study, in addition to documenting the genetic and molecular heterogeneity observed for LD, suggests that mutations in the NHLRC1 gene may be a common cause of LD in the Japanese population...