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We report a new family with palatal myoclonus, pyramidal tract signs, cerebellar signs, marked atrophy of the medulla oblongata and spinal cord, and autosomal dominant inheritance. These findings were almost identical with those in patients previously reported to have histopathologically confirmed adult-onset Alexander disease. Recently, heterozygous point(More)
OBJECTIVES To clarify the clinical variability, including central nervous system (CNS) involvement, in X-linked Charcot-Marie-Tooth disease (CMTX) patients. MATERIAL AND METHODS We clinically, pathologically and genetically studied six CMTX patients with distinct symptoms and four different GJB1 mutations. RESULTS One patient with Val63Ile had deafness,(More)
Splice variants of CD44 molecule-harboring exon 10 (v6), often called v6 variants (v6v), are shown to confer tumor progressive, metastatic or invasive capacities. Furthermore, CD44 molecule on activated T-cells are shown to be required for infiltration of these cells into the inflammatory site and for accelerated immune response. Human T-cell lymphotropic(More)
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