TY - JOUR
T1 - Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies
AU - Numata, Yurika
AU - Gotoh, Leo
AU - Iwaki, Akiko
AU - Kurosawa, Kenji
AU - Takanashi, Jun Ichi
AU - Deguchi, Kimiko
AU - Yamamoto, Toshiyuki
AU - Osaka, Hitoshi
AU - Inoue, Ken
N1 - Copyright:
Copyright 2014 Elsevier B.V., All rights reserved.
PY - 2014/4
Y1 - 2014/4
N2 - 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.
AB - 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.
KW - Epidemiology
KW - Hypomyelinating leukodystrophy
KW - Pelizaeus-Merzbacher disease
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U2 - 10.1007/s00415-014-7263-5
DO - 10.1007/s00415-014-7263-5
M3 - Article
C2 - 24532200
AN - SCOPUS:84898916523
VL - 261
SP - 752
EP - 758
JO - Journal of Neurology
JF - Journal of Neurology
SN - 0340-5354
IS - 4
ER -