Insights into origins of idiopathic normal pressure hydrocephalus, NPH

A research team with Mark D Johnson, MD, states once and for all that NPH is a disease and they have new research data that the origin of idiopathic Normal Pressure Hydrocephalus can be found in a genetic component.

Researchers have up until now not been able to explain why the disease occurs.

Idiopathic normal pressure hydrocephalus (iNPH), a condition whose symptoms are often mistakenly attributed to Parkinson’s or Alzheimer’s disease, or simply old age. It has been estimated that one in seven people living in nursing homes has iNPH, but most are undiagnosed or misdiagnosed because symptoms can resemble other disorders. There are studies showing that 4% of people over the age of 65 have NPH.

Using sophisticated techniques to sequence the DNA of patients with iNPH, Johnson and his team identified damaging mutations in a gene called CWH43 in 15 percent of iNPH patients. These mutations were found statistically more often among iNPH patients than in the general population.

The researchers then used genetically engineered mice to explore the mechanism by which mutant CWH43 proteins lead to symptoms of iNPH. Mice with the mutations displayed hydrocephalus, gait and balance abnormalities, and other functional and cellular changes leading to excess cerebrospinal fluid in the brain.

The findings provide new mechanistic insights into the origins of iNPH and may provide a blueprint for new treatments for this disorder, the researchers say.

Read the whole article at UMass Med News

Originally published February 26, 2021, at UMass Med News.

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