A Segmental Copy Number Loss of the SFMBT1 Gene Is a Genetic Risk for Shunt-Responsive, Idiopathic Normal Pressure Hydrocephalus (iNPH): A Case-Control Study.

doi:10.1371/journal.pone.0166615

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Article

A Segmental Copy Number Loss of the SFMBT1 Gene Is a Genetic Risk for Shunt-Responsive, Idiopathic Normal Pressure Hydrocephalus (iNPH): A Case-Control Study.

PloS one - 1 Jan 2016

Sato Hidenori, Takahashi Yoshimi, Kimihira Luna, Iseki Chifumi, Kato Hajime, Suzuki Yuya, Igari Ryosuke, Sato Hiroyasu, Koyama Shingo, Arawaka Shigeki, Kawanami Toru, Miyajima Masakazu, Samejima Naoyuki, Sato Shinya, Kameda Masahiro, Yamada Shinya, Kita Daisuke, Kaijima Mitsunobu, Date Isao, Sonoda Yukihiko, Kayama Takamasa, Kuwana Nobumasa, Arai Hajime, Kato Takeo

Abstract excerpt

Little is known about genetic risk factors for idiopathic normal pressure hydrocephalus (iNPH). We examined whether a copy number loss in intron 2 of the SFMBT1 gene could be a genetic risk for shunt-responsive, definite iNPH. Quantitative and digital PCR analyses revealed that 26.0% of shunt-responsive definite iNPH patients (n = 50) had such a genetic change, as compared with 4.2% of the healthy elderly (n =...

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PMID: 27861535
DOI: 10.1371/journal.pone.0166615
PMCID: PMC5115754

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SFMBT1

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