caa a22 4500 445811250 CHVBK 20180317145212.0 cr unu---uuuuu 170323e20111101xx s 000 0 eng 10.1007/s00415-011-6056-3 doi (NATIONALLICENCE)springer-10.1007/s00415-011-6056-3 Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis [Elektronische Daten] [Tomokatsu Yoshida, Masayuki Sasaki, Mari Yoshida, Michito Namekawa, Yuji Okamoto, Seiichi Tsujino, Hiroshi Sasayama, Ikuko Mizuta, Masanori Nakagawa] Alexander disease (AxD) is a rare neurodegenerative disorder characterized by white matter degeneration and formation of cytoplasmic inclusions. Glial fibrillary acidic protein (GFAP) mutations have been reported in various forms of AxD since 2001. However, a definitive diagnosis remains difficult because of uncertain prevalence, and different clinical features seen in infantile AxD and adult AxD may lead to confusion and misdiagnosis. Here we report an epidemiological study conducted in Japan. Two nationwide questionnaire-based surveys were conducted using tentative diagnostic criteria. We gathered information regarding prevalence, neurological findings, magnetic resonance imaging (MRI) findings, electrophysiological findings, genetic information, and the results of therapeutic interventions and home care. Prevalence of various forms of AxD was determined as 27.3% (infantile), 24.2% (juvenile), and 48.5% (adult). Prevalence of AxD in Japan was estimated to be approximately 1 case per 2.7 million individuals. The main characteristics of infantile and juvenile AxD include delayed psychomotor development or mental retardation, convulsions, macrocephaly, and predominant cerebral white matter abnormalities in the frontal lobe on brain MRI. The main characteristics of adult AxD include bulbar signs, muscle weakness with hyperreflexia, and signal abnormalities and/or atrophy of medulla oblongata and cervical spinal cord on MRI. To ensure correct diagnosis of AxD, the physician should understand the importance of the process of GFAP genetic testing, which provides definitive diagnosis. Therefore, we propose new clinical guidelines for diagnosing AxD based on simplified classifications: cerebral AxD (type1), bulbospinal AxD (type2), and intermediate form (type3). Springer-Verlag, 2011 Glial fibrillary acidic protein nationallicence Alexander disease nationallicence Genetics nationallicence Magnetic resonance imaging nationallicence Prevalence nationallicence AxD : Alexander disease nationallicence GFAP : Glial fibrillary acidic protein nationallicence EEG : Electroencephalogram nationallicence ABR : Auditory brainstem response nationallicence TRH : Thyroid-releasing hormone nationallicence Yoshida Tomokatsu Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kawaramachi Hirokoji, Kajii-chou 465, Kamigyo-ku, 602-0841, Kyoto, Japan aut Sasaki Masayuki Department of Child Neurology, National Center Hospital of Neurology and Psychiatry, Tokyo, Japan aut Yoshida Mari Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, Aichi, Japan aut Namekawa Michito Department of Neurology, Jichi Medical University, Tochigi, Japan aut Okamoto Yuji Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medicine and Dental Sciences, Kagoshima, Japan aut Tsujino Seiichi Department of Rehabilitation, Osaka General Medical Center, Osaka, Japan aut Sasayama Hiroshi Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kawaramachi Hirokoji, Kajii-chou 465, Kamigyo-ku, 602-0841, Kyoto, Japan aut Mizuta Ikuko Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kawaramachi Hirokoji, Kajii-chou 465, Kamigyo-ku, 602-0841, Kyoto, Japan aut Nakagawa Masanori Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kawaramachi Hirokoji, Kajii-chou 465, Kamigyo-ku, 602-0841, Kyoto, Japan aut Journal of Neurology Springer-Verlag 258/11(2011-11-01), 1998-2008 0340-5354 258:11<1998 2011 258 415 https://doi.org/10.1007/s00415-011-6056-3 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00415-011-6056-3 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Yoshida Tomokatsu Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kawaramachi Hirokoji, Kajii-chou 465, Kamigyo-ku, 602-0841, Kyoto, Japan aut NATIONALLICENCE 700 1- Sasaki Masayuki Department of Child Neurology, National Center Hospital of Neurology and Psychiatry, Tokyo, Japan aut NATIONALLICENCE 700 1- Yoshida Mari Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, Aichi, Japan aut NATIONALLICENCE 700 1- Namekawa Michito Department of Neurology, Jichi Medical University, Tochigi, Japan aut NATIONALLICENCE 700 1- Okamoto Yuji Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medicine and Dental Sciences, Kagoshima, Japan aut NATIONALLICENCE 700 1- Tsujino Seiichi Department of Rehabilitation, Osaka General Medical Center, Osaka, Japan aut NATIONALLICENCE 700 1- Sasayama Hiroshi Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kawaramachi Hirokoji, Kajii-chou 465, Kamigyo-ku, 602-0841, Kyoto, Japan aut NATIONALLICENCE 700 1- Mizuta Ikuko Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kawaramachi Hirokoji, Kajii-chou 465, Kamigyo-ku, 602-0841, Kyoto, Japan aut NATIONALLICENCE 700 1- Nakagawa Masanori Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kawaramachi Hirokoji, Kajii-chou 465, Kamigyo-ku, 602-0841, Kyoto, Japan aut NATIONALLICENCE 773 0- Journal of Neurology Springer-Verlag 258/11(2011-11-01), 1998-2008 0340-5354 258:11<1998 2011 258 415 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer