Anticipation in hereditary dentatorubral-pallidoluysian atrophy |
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| Authors: | Akira Sano Noriko Yamauchi Yasuo Kakimoto Osamu Komure Jun Kawai Fumitada Hazama Kazuyo Kuzume Nozomi Sano Ikuko Kondo |
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| Institution: | (1) Department of Neuropsychiatry, Ehime University School of Medicine, Shigenobu, Onsen-gun, 791-02 Ehime, Japan;(2) Department of Hygiene, Ehime, University School of Medicine, Shigenobu, Onsen-gun, 791-02 Ehime, Japan;(3) Department of Neurology, Utano National Hospital, Narutaki, Ukyo-ku, 616 Kyoto, Japan;(4) Department of Pathology, Shiga University of Medical Science, Ohtsu, 520-21 Shiga, Japan;(5) Department of Pediatrics, Ehime National Hospital, Shigenobu, Onsen-gun, 791-02 Ehime, Japan;(6) Present address: Department of Psychiatry and Neurology, Kobe University School of Medicine, Kusunoki-cho, Chuo-ku, 650 Kobe, Japan;(7) Present address: Department of Pathology, Kinki University School of Medicine, Sayama, 377-2 Osaka, Japan |
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| Abstract: | Anticipation refers to the progressively earlier onset and increase in disease severity in successive generations. We studied four families with hereditary dentatorubral-pallidoluysian atrophy (DRPLA), a neurodegenerative disease, and anticipation was present in the mode of inheritance. In subsequent generations DRPLA shows an earlier onset and more severe as well as additional symptoms. Older onset patients suffer from cerebellar ataxia with or without dementia, whereas younger onset patients present as progressive myoclonus epilepsy syndrome, which consists of mental retardation, dementia, and cerebellar ataxia as well as epilepsy and myoclonus. Anticipation with paternal transmission was significantly greater than with maternal transmission. |
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