Neel H Mehta, Eduardo A Maury, Zachary Buller, Phan Q Duy, Carla Fortes, Seth L Alper, E Zeynep Erson-Omay, Kristopher T Kahle
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Genetics and molecular pathophysiology of normal pressure hydrocephalus.
Idiopathic normal pressure hydrocephalus (iNPH) is characterized by dilation of the cerebral ventricles without increased cerebral pressure. Patients typically present with cognitive impairment, gait abnormalities, and urinary incontinence. Despite current guidelines for diagnosis and surgical intervention, there is little consensus on the pathophysiology of iNPH. Familial cases and genomic studies of iNPH have recently suggested an underappreciated role of genetics in disease pathogenesis, implicating mechanisms ranging from dysregulated CSF dynamics to underlying neurodegenerative or neuroinflammatory processes. In this paper, the authors provide a brief review of genetic insights and candidate genes for iNPH, highlighting the continued importance of integrated genetic analysis and clinical studies to advance iNPH management.
期刊介绍:
The Journal of Neurosurgery, Journal of Neurosurgery: Spine, Journal of Neurosurgery: Pediatrics, and Neurosurgical Focus are devoted to the publication of original works relating primarily to neurosurgery, including studies in clinical neurophysiology, organic neurology, ophthalmology, radiology, pathology, and molecular biology. The Editors and Editorial Boards encourage submission of clinical and laboratory studies. Other manuscripts accepted for review include technical notes on instruments or equipment that are innovative or useful to clinicians and researchers in the field of neuroscience; papers describing unusual cases; manuscripts on historical persons or events related to neurosurgery; and in Neurosurgical Focus, occasional reviews. Letters to the Editor commenting on articles recently published in the Journal of Neurosurgery, Journal of Neurosurgery: Spine, and Journal of Neurosurgery: Pediatrics are welcome.