Table 16 Normal Pressure Hydrocephalus
From: The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact
Citation | Title | Author affiliation | Case # | Ancestry | Study design | CNS phenotype | Non-CNS phenotype | Type of hydrocephalus | Genetic Methodology | Genetic Analysis | Inheritance | Genetic Findings |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
Kato et al., 2011 [113] | Segmental copy number loss of SFMBT1 gene in elderly individuals with ventriculomegaly: a community-based study | Yamagata University Faculty of Medicine, Japan | 8 Subjects, 10 Controls | Japanese | Case series | Isolated hydrocephalus | Â | Communicating | WGS, cytogenetics | CNV, aCGH | - | 3p21.1 (12Â kb deletion within intron 2 of SFMBT1) |
Morimoto et al., 2019 [382] | Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities | Kagawa University, Takamatsu, Japan | 5 Subjects, Controls used | Japanese | Case study | Isolated hydrocephalus | Chronic sinusitis, pneumonia | Communicating | WES | Sanger sequencing | Heterozygous | 10q25.1 (c.C105893468T in CFAP43) |
Sato et al., 2016 [115] | 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 | Yamagata University Faculty of Medicine, Yamagata, Japan | 50 Subjects, 110 Controls | Japanese | Case–Control | Isolated hydrocephalus |  | Communicating | TGS | CNV | De novo | 3p21.1 (deletion in intron 2 of the SFMBT1) |
Zhang et al., 2010 [383] | Genome-wide linkage scan maps ETINPH gene to chromosome 19q12-13.31 | Center for Neurosciences, Texas Tech University Health Science Center, El Paso, TX, USA | 26 Subjects | - | Case series | Essential tremor |  | Communicating | Genotyping | SNP, linkage analysis | AD | ETINPH locus localized to chromosome 19q12–13.31 |