Cases of familial idiopathic normal pressure hydrocephalus implicate genetic factors in disease pathogenesis

Review Clinical Neurology

Magnetic resonance elastography in normal pressure hydrocephalus-a scoping review

Jan Saip Aunan-Diop et al.

Summary: MRE studies in NPH are still facing challenges such as limited participants, variable cohorts, inconsistent methodologies, and technical issues, but show great potential for future clinical applications.

NEUROSURGICAL REVIEW (2022)

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Article Neurosciences

Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus

Phan Q. Duy et al.

Summary: This study reveals a neuroprogenitor-based genetic subtype of human hydrocephalus with defective neurogenesis and altered brain-fluid biomechanics. By analyzing genomic and transcriptomic data of 483 patients with congenital hydrocephalus, the study identifies a group of risk genes that converge in embryonic neuroepithelial stem cells. Mutations in these genes lead to premature neuroepithelial cell differentiation and reduced neurogenesis, resulting in the development of hydrocephalus. This research highlights the importance of precisely regulated neuroepithelial cell fate for normal brain-CSF biomechanics and provides insights into the genetic mechanisms behind hydrocephalus.

NATURE NEUROSCIENCE (2022)

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Article Neurosciences

Rethinking the cilia hypothesis of hydrocephalus

Phan Q. Duy et al.

Summary: This article reviews human and animal evidence regarding the role of motile cilia in hydrocephalus and suggests a need to reconsider the cilia hypothesis. It argues that ependymal cilia may not be the primary driver of cerebrospinal fluid movement in the human brain, especially during fetal development. Additionally, it highlights that motile ciliopathies causing hydrocephalus are rare in humans and suggests that other factors, such as altered neurodevelopment, may be involved. Further research is needed to understand the link between motile cilia, cerebrospinal fluid physiology, and brain development.

NEUROBIOLOGY OF DISEASE (2022)

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Article Medicine, Research & Experimental

Deletions in CWH43 cause idiopathic normal pressure hydrocephalus

Hong Wei Yang et al.

Summary: Idiopathic normal pressure hydrocephalus (iNPH) is a rare neurological disorder characterized by enlarged cerebral ventricles, gait difficulty, and cognitive decline. A study found that heterozygous loss of function deletions in the CWH43 gene may be associated with the disease, providing new insights into its origins.

EMBO MOLECULAR MEDICINE (2021)

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Article Clinical Neurology

Ependymal ciliary motion and their role in congenital hydrocephalus

Koichiro Sakamoto et al.

Summary: Numerous papers have been published on the correlation between ciliary function and hydrocephalus since the first reported case in 1984. Studies on animal models have shown genetic mutations causing hydrocephalus via ciliary dysfunction, but human cases of hydrocephalus solely due to cilia abnormalities are rare.

CHILDS NERVOUS SYSTEM (2021)

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Article Multidisciplinary Sciences

Increased plasmin-mediated proteolysis of L1CAM in a mouse model of idiopathic normal pressure hydrocephalus

Dejun Yang et al.

Summary: Deletions in CWH43 may contribute to adult-onset iNPH by selectively downregulating L1CAM in the ventricular and subventricular zones, leading to changes in N-glycosylation, cell membrane association, cleavage, shedding, and nuclear translocation of L1CAM, ultimately affecting intracellular signaling pathways.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2021)

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Article Neuroimaging

MR Elastography demonstrates reduced white matter shear stiffness in early-onset hydrocephalus

M. E. Wagshul et al.

Summary: The study used MRE to assess brain stiffness in hydrocephalus patients compared to healthy controls, finding that patients had significantly lower brain stiffness. Among patients, lower stiffness was associated with factors such as age, gender, and ventricular volume, and predicted clinical outcomes such as quality of life and depression.

NEUROIMAGE-CLINICAL (2021)

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Article Clinical Neurology

Guidelines for Management of Idiopathic Normal Pressure Hydrocephalus (Third Edition): Endorsed by the Japanese Society of Normal Pressure Hydrocephalus

Madoka Nakajima et al.

Summary: This article introduces the third edition of the management guidelines for idiopathic normal pressure hydrocephalus (iNPH), including a new disease classification and diagnostic algorithm, aimed at promoting international research and improving the diagnosis and treatment of iNPH.

NEUROLOGIA MEDICO-CHIRURGICA (2021)

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Article Clinical Neurology

The clinical spectrum of hydrocephalus in adults: report of the first 517 patients of the Adult Hydrocephalus Clinical Research Network registry

Michael A. Williams et al.

JOURNAL OF NEUROSURGERY (2020)

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Article Clinical Neurology

Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities

Yoshiro Morimoto et al.

NEUROLOGY (2019)

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Article Genetics & Heredity

Copy number loss in SFMBT1 is common among Finnish and Norwegian patients with iNPH

Ville E. Korhonen et al.

NEUROLOGY-GENETICS (2018)

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Review Neurosciences

Frontotemporal dementia as a comorbidity to idiopathic normal pressure hydrocephalus (iNPH): a short review of literature and an unusual case

V. E. Korhonen et al.

FLUIDS AND BARRIERS OF THE CNS (2017)

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Article Clinical Neurology

MR Elastography Demonstrates Increased Brain Stiffness in Normal Pressure Hydrocephalus

N. Fattahi et al.

AMERICAN JOURNAL OF NEURORADIOLOGY (2016)

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Article Neurosciences

High Risk of Dementia in Ventricular Enlargement with Normal Pressure Hydrocephalus Related Symptoms

Anne M. Koivisto et al.

JOURNAL OF ALZHEIMERS DISEASE (2016)

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Article Clinical Neurology

Familial idiopathic normal pressure hydrocephalus

Joel Huovinen et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2016)

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Article Multidisciplinary Sciences

The APOE Genotype in Idiopathic Normal Pressure Hydrocephalus

Yi Yang et al.

PLOS ONE (2016)

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Article Multidisciplinary Sciences

A Segmental Copy Number Loss of the SFMBT1 Gene Is a Genetic Risk for Shunt-Responsive, Idiopathic Normal Pressure Hydrocephalus (iNPH): A Case-Control Study

Hidenori Sato et al.

PLOS ONE (2016)

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Review Clinical Neurology

Epidemiology of Idiopathic Normal Pressure Hydrocephalus: A Systematic Review of the Literature

Ruben Martin-Laez et al.

WORLD NEUROSURGERY (2015)

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Article Neurosciences

Distinguishing Alzheimer's Disease from Normal Pressure Hydrocephalus: A Search for MRI Biomarkers

Antonio Di Ieva et al.

JOURNAL OF ALZHEIMERS DISEASE (2014)

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Article Clinical Neurology

Differentiating shunt-responsive normal pressure hydrocephalus from Alzheimer disease and normal aging: pilot study using automated MRI brain tissue segmentation

Yafell Serulle et al.

JOURNAL OF NEUROLOGY (2014)

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Article Clinical Neurology

Prevalence of idiopathic normal-pressure hydrocephalus

Daniel Jaraj et al.

NEUROLOGY (2014)

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Letter Clinical Neurology

Novel case of familial normal pressure hydrocephalus

Evangelia Liouta et al.

PSYCHIATRY AND CLINICAL NEUROSCIENCES (2014)

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Article Clinical Neurology

Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases

Homa Adle-Biassette et al.

ACTA NEUROPATHOLOGICA (2013)

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Review Neurosciences

Influence of comorbidities in idiopathic normal pressure hydrocephalus - research and clinical care. A report of the ISHCSF task force on comorbidities in INPH

Jan Malm et al.

FLUIDS AND BARRIERS OF THE CNS (2013)

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Article Clinical Neurology

APOE4 predicts amyloid-β in cortical brain biopsy but not idiopathic normal pressure hydrocephalus

Okko T Pyykkö et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2012)

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Article Clinical Neurology

Familial aggregation of idiopathic normal pressure hydrocephalus: Novel familial case and a family study of the NPH triad in an iNPH patient cohort

Alexander McGirr et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2012)

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Article Clinical Neurology

Cortical Brain Biopsy in Long-Term Prognostication of 468 Patients with Possible Normal Pressure Hydrocephalus

Ville Leinonen et al.

NEURODEGENERATIVE DISEASES (2012)

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Review Clinical Neurology

Post-mortem findings in 10 patients with presumed normal-pressure hydrocephalus and review of the literature

V. Leinonen et al.

NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY (2012)

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Article Clinical Neurology

Normal-Pressure Hydrocephalus: Is There a Genetic Predisposition?

M. D. Cusimano et al.

CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES (2011)

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Article Medicine, General & Internal

Segmental Copy Number Loss of SFMBT1 Gene in Elderly Individuals with Ventriculomegaly: A Community-Based Study

Takeo Kato et al.

INTERNAL MEDICINE (2011)

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Article Clinical Neurology

Familial normal pressure hydrocephalus (NPH) with an autosomal-dominant inheritance: A novel subgroup of NPH

Yoshimi Takahashi et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2011)

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Article Clinical Neurology

Asymptomatic ventriculomegaly with features of idiopathic normal pressure hydrocephalus on MRI (AVIM) in the elderly: A prospective study in a Japanese population

Chifumi Iseki et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2009)

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Article Genetics & Heredity

Heritable essential tremor-idiopathic normal pressure hydrocephalus (ETINPH)

Jun Zhang et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)

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Article Health Care Sciences & Services

The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement: guidelines for reporting observational studies

Erik von Elm et al.

JOURNAL OF CLINICAL EPIDEMIOLOGY (2008)

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Article Clinical Neurology

Idiopathic normal-pressure hydrocephalus: clinical comorbidity correlated with cerebral biopsy findings and outcome of cerebrospinal fluid shunting

R. Bech-Azeddine et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2007)

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Article Clinical Neurology

Late onset X-linked hydrocephalus with normal cerebrospinal fluid pressure

S Katsuragi et al.

PSYCHIATRY AND CLINICAL NEUROSCIENCES (2000)

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Cases of familial idiopathic normal pressure hydrocephalus implicate genetic factors in disease pathogenesis

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