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Table 2 List of candidate genes involved in NPH

From: Cerebrospinal fluid biomarkers and genetic factors associated with normal pressure hydrocephalus and Alzheimer’s disease: a narrative review

Gene Relation References
CFAP43 Nonsense gene mutation in NPH [58]
A1R and A2AR Low expression in NPH [61]
Transthyretin Low expression in NPH [64]
AMPP High expression in NPH [64]
SFMBT1 Copy loss in NPH [71,72,73]
C9ORF72 Full or intermediate (20–30 repeats) expansion [84]
APOE ApoE3/3 genotype associated with gait improvement in NPH [93,94,95]
ATP1A3 Gene mutation in NPH [99, 100]
PSENEN Involved in AD and NPH pathophysiology [102]
APLP1 Involved in AD and NPH pathophysiology [103]