2016 Fiscal Year Final Research Report
Genetic studies of congenital normal pressure hydrocephalus
| Project/Area Number |
26462218
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Neurosurgery
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| Research Institution | Juntendo University |
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Principal Investigator |
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| Project Period (FY) |
2014-04-01 – 2017-03-31
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| Keywords | 正常圧水頭症 / 家族性 / 線毛 |
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| Outline of Final Research Achievements |
The authors’s goal in this study is to provide the first clinical, radiological and genetic studies of panventriculomegary with a wide foramen of Magendie and large cisterna magna (PaVM) defined by a wide foramen of Magendie and large cisterna magna. Adult patients showed gait disturbance, urinary dysfunction, and cognitive dysfunction. Five infant patients exhibited macrocranium. Genetic analysis revealed a deletion in DNAH14 that encodes a dynein heavy chain protein associated with motile cilia function. Immunohistochemistry localized DNAH14 specifically to choroid plexus epithelial cells and ependymal cells. Panventriculomegaly with a wide formen of Magendie and a large cisterna magna may belong to a subtype of congenital hydrocephalus with familial accumulation, younger age at onset, and symptoms of normal pressure hydrocephalus. In addition, a family with PaVM has a gene mutation associated with dysfunction of motile cilia.
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| Free Research Field |
医学
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