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Normal Pressure Hydrocephalus

Normal pressure hydrocephalus (NPH) presents with enlarged brain ventricles without a concomitant increase in cerebrospinal fluid (CSF) pressure. Patient classically present with the clinical triad of gait ataxia, urinary incontinence, and dementia. It is estimated that there are up to 1.8 cases per 100,000 in the general population but with 1.6-5.4% of patients with dementia have NPH. Treatment of NHP is typically with surgical CSF diversion with placement of a shunt into the ventricular or lumbar subarachnoid space. CSF shunting is associated with numerous potential complications and results in variable rates of symptoms improvement.

There are significant gaps in our understanding of NPH pathogenesis and genetics. This impedes the development of preventive, diagnostic, and therapeutic strategies. Our team is determined to uncover the genetic causes of NPH and improve the lives of patients. Affected individuals and their families are welcomed and encouraged to participate!