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• W2069741759 abstract "We report on a Japanese family having an autosomal dominant neurodegenerative disease with chromosomal instability and radiosensitivity. Clinical manifestations of affected members included short stature, osteoporosis, severe dental caries, and various neurological abnormalities, such as mental retardation, depression, dysarthria, hyperreflexia, and ataxic gait. MRI demonstrated a markedly atrophic spinal cord and degeneration of the white matter. Cytogenetic examination showed spontaneous chromosome rearrangements at 14q11.2 and hypersensitivity to radiation and bleomycin. The degree of these cytogenetic abnormalities was significantly higher in the patients than in normal controls but lower than in patients with ataxia telangiectasia or Nijmegen breakage syndrome. Moreover, genetic anticipation was observed in this family: the age of disease onset became earlier, MRI abnormalities more extensive, and the chromosome hypersensitivity to radiation increased in successive generations. We speculate that a basic defect in this family is a mutation in the gene that is responsible for DNA double-strand breakage repair." @default.
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• W2069741759 date "2000-01-01" @default.
• W2069741759 modified "2023-10-16" @default.
• W2069741759 title "Japanese family with an autosomal dominant chromosome instability syndrome: A new neurodegenerative disease?" @default.
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• W2069741759 doi "https://doi.org/10.1002/1096-8628(20001002)94:4<265::aid-ajmg1>3.0.co;2-#" @default.
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