Spinocerebellar ataxia 8: Variable phenotype and unique pathogenesis |
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| Authors: | Amitabh Gupta Joseph Jankovic |
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| Affiliation: | 1. Department of Neurology and Neurological Science, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8519, Japan;2. The Center for Personalized Medicine for Healthy Aging, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8519, Japan;3. Department of Neurology, Kawaguchi Kogyo General Hospital, 1-18-15 Aoki, Kawaguchi, Saitama 332-0031, Japan;4. Department of Pathology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8519, Japan;5. Department of Cellular Neurobiology, Graduate School of Medicine and Faculty of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-0033, Japan;6. Laboratory of Pathology, Department of Clinical Laboratory Medicine, Bunkyo Gakuin University Graduate School of Health Care Science, 2-4-1 Mukogaoka, Bunkyo-ku, Tokyo 113-0023, Japan;7. Department of Cancer Pathology, Hokkaido University Graduate School of Medicine, North 15, West 7, Kita-ku, Sapporo 060-8638, Hokkaido, Japan;8. Department of Surgical Pathology, Hokkaido University Hospital, Hokkaido University, North 14, West 5, Kita-ku, Sapporo 060-8648, Hokkaido, Japan;9. Department of Pathology, Shiga Medical Center for Adults, 5-4-30 Moriyama, Moriyama, Shiga 524-8524, Japan;10. The National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo 187-8551, Japan;1. Department of Neurology and Neurological Science, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8519, Japan;2. The Center for Personalized Medicine for Healthy Aging, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8519, Japan |
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| Abstract: | Spinocerebellar ataxia 8 (SCA8), a triplet repeat expansion disorder, is genetically distinct from the other inherited ataxias, but its unusually variable phenotype can make its diagnosis difficult. In this review we describe 3 new cases of genetically verified SCA8 to highlight the broad clinical spectrum of symptoms observed with this disorder and to draw attention to the features of myoclonus and migraine headaches, which in the context of cerebellar ataxia warrants the clinician to consider SCA8 as a potential diagnosis. We also address the controversy surrounding the genetic testing approach for diagnosing SCA8. Finally, we evaluate the evidence that SCA8 may affect calcium channel function and that the presentation of episodic ataxia and migraines suggests a clinical and pathogenic overlap of SCA8 with the channelopathies. |
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