Case Report
Volume: 4 | Issue: 5 | Published: May 26, 2020 | Pages: 157 - 160 | DOI: 10.24911/ejmcr/173-1570436579
A patient with idiopathic normal pressure hydrocephalus and amyotrophic lateral sclerosis. Coincidence or a genetic link between the diseases?
Authors: Andreas Eleftheriou , Martin Nilsson , Fredrik Lundin
Article Info
Authors
Andreas Eleftheriou
Department of Neurology and Department of Biomedical and Clinical Sciences, Division of Neurobiology, Linkoping University, Linkoping, Sweden
Martin Nilsson
Department of Neurosurgery in Linkoping, and Department of Biomedical and Clinical Sciences, Linkoping University, Linkoping, Sweden
Fredrik Lundin
Department of Neurology and Department of Biomedical and Clinical Sciences, Division of Neurobiology, Linkoping University, Linkoping, Sweden
Publication History
Received: October 07, 2019
Revised: April 19, 2020
Accepted: May 02, 2020
Published: May 26, 2020
Abstract
Background: Idiopathic normal pressure hydrocephalus (iNPH) is usually regarded as a disease characterized by gait and balance disturbance, cognitive dysfunction, and urinary symptoms. The pathophysiology of iNPH is still unknown, but the increased number of familial cases raises the suspicion of a genetic component. The C9ORF72 expansion is known to cause frontotemporal lobar degeneration and ALS, and its prevalence is found among Finnish iNPH patients. Case Presentation: We report an interesting case of a patient with possible iNPH who also developed ALS. Conclusion: Our case raises the theory of coexistence of gene-induced etiology. Key Message: Our case also raises the question of a genetic link between iNPH and ALS.
Keywords: Idiopathic normal pressure hydrocephalus, familial, C9ORF72 expansion, ALS, green
