Isolation and thepay for congenital hypomyelinating disorders

2014 Fiscal Year Final Research Report

• Project/Area Number: 23591264
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Neurology
• Research Institution: Jichi Medical University (2013-2014); Kanagawa Cancer Center Research Institute (2011-2012)
• Principal Investigator: OSAKA Hitoshi 自治医科大学, 医学部, 教授 (90426320)
• Project Period (FY): 2011-04-28 – 2015-03-31
• Keywords: 白質形成不全 / POL3A / POL3B / HCAHC

Outline of Final Research Achievements

1.We found gene that cause “Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum”, HCAHC(New syndrome, proposed by Sasake et al.2009) Saitsu H, Osaka H, et al., Am J Hum Genet 89 (5):644-651.
2.We found phenotypic differences by POLR3A and POLR3B mutations. Takanashi JI, Osaka et al. Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations. Brain Dev. 2013 May 3. doi:pii: S0387-7604(13)00132-0.3.We proposed a geno-phenotypic correlation in Leukoencephalopathy Hypomyelinationwith Atrophy of the Basal Ganglia and Cerebellum. Kato M, Saitsu H, et al. Neurology. 2014 Jun 17;82(24):2230-7

Free Research Field

神経変性疾患