Abstract：
:To determine the epidemiological, clinical, and genetic characteristics of congenital hypomyelinating leukodystrophies, including Pelizaeus-Merzbacher disease (PMD), we conducted a nationwide epidemiological survey in Japan. A two-step survey targeting all medical institutions specializing in pediatric neurology and childhood disability (919 institutes) in Japan was performed. Detailed information was collected for 101 patients (86 males and 15 females) with congenital hypomyelinating leukodystrophies. The prevalence of congenital hypomyelinating disorders was 0.78 per 100,000 people (0-19 years old), and the incidence was 1.40 per 100,000 live births. Molecular testing was performed in 75 % of patients, and PLP1 gene abnormalities were observed in 62 %. The incidence of PMD with PLP1 mutations was estimated to be 1.45 per 100,000 male live births and that for congenital hypomyelinating disorders with unknown cause to be 0.41 per 100,000 live births. Patients with PLP1 mutations showed a higher proportion of nystagmus and hypotonia, both of which tend to disappear over time. Our results constitute the first nationwide survey of congenital hypomyelinating disorders, and provide the epidemiological, clinical, and genetic landscapes of these disorders.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Numata Y,Gotoh L,Iwaki A,Kurosawa K,Takanashi J,Deguchi K,Yamamoto T,Osaka H,Inoue Kdoi
10.1007/s00415-014-7263-5subject
Has Abstractpub_date
2014-04-01 00:00:00pages
752-8issue
4eissn
0340-5354issn
1432-1459journal_volume
261pub_type
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pub_type： 临床试验,杂志文章
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pub_type： 杂志文章,随机对照试验
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更新日期：2018-06-01 00:00:00
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更新日期：2007-02-01 00:00:00
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pub_type： 临床试验,杂志文章
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