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Genetics and molecular pathophysiology of normal pressure hydrocephalus.
Mehta, Neel H; Maury, Eduardo A; Buller, Zachary; Duy, Phan Q; Fortes, Carla; Alper, Seth L; Erson-Omay, E Zeynep; Kahle, Kristopher T.
Afiliación
  • Mehta NH; 1Department of Neurosurgery, Harvard Medical School and Massachusetts General Hospital, Boston, Massachusetts.
  • Maury EA; 1Department of Neurosurgery, Harvard Medical School and Massachusetts General Hospital, Boston, Massachusetts.
  • Buller Z; 2Harvard/MIT MD-PhD Program, Harvard Medical School, Boston, Massachusetts.
  • Duy PQ; 3Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
  • Fortes C; 1Department of Neurosurgery, Harvard Medical School and Massachusetts General Hospital, Boston, Massachusetts.
  • Alper SL; Departments of4Neurosurgery and.
  • Erson-Omay EZ; 5Neuroscience, University of Virginia School of Medicine, Charlottesville, Virginia.
  • Kahle KT; 1Department of Neurosurgery, Harvard Medical School and Massachusetts General Hospital, Boston, Massachusetts.
J Neurosurg ; : 1-7, 2024 Aug 23.
Article en En | MEDLINE | ID: mdl-39178477
ABSTRACT
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: J Neurosurg Año: 2024 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: J Neurosurg Año: 2024 Tipo del documento: Article Pais de publicación: Estados Unidos