scholarly journals Normal-Pressure Hydrocephalus: Is There a Genetic Predisposition?

2011 ◽  
Vol 38 (2) ◽  
pp. 274-281 ◽  
Author(s):  
M. D. Cusimano ◽  
D. Rewilak ◽  
D. T. Stuss ◽  
J. C. Barrera-Martinez ◽  
F. Salehi ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Urinary Incontinence ◽  
Cognitive Impairment ◽  
Environmental Factors ◽  
Natural History ◽  
Normal Pressure Hydrocephalus ◽  
Genetic Predisposition ◽  
Fluid Pressure ◽  
Cerebral Atrophy ◽  
Normal Pressure

Background:Normal-pressure hydrocephalus (NPH) is characterized by gait disturbance, cognitive impairment, with or without urinary incontinence, enlarged ventricles with or without cerebral atrophy and normal cerebrospinal fluid pressure.Methods:We report two sisters with NPH who lived together their entire lives and whose natural history might provide insights into genetic and environmental mechanisms underlying this disorder. Both patients were in their early seventies, single, had similar daily habits and hypertension. No other family members had NPH.Results:They both underwent shunt placement and showed improvement documented by history and neuropsychological assessment. Both showed a delayed deterioration due to vasculopathy. Both patients were homozygous for the apolipoprotein E (ApoE) e3 allele on chromosome 19. No environmental factors that might have influenced the development of NPH were identified.Conclusion:Our report of two sisters with NPH may indicate the presence of genetic predisposition and further studies involving genetics and environmental factors are necessary to elucidate their role in the pathogenesis of NPH.

scholarly journals P.007 Familial idiopathic normal pressure hydrocephalus in a Canadian family

2018 ◽  
Vol 45 (s2) ◽  
pp. S17-S17
Author(s):  
BC Shettar ◽  
S Mirsattari
Keyword(s):  
Cognitive Impairment ◽  
Normal Pressure Hydrocephalus ◽  
Large Volume ◽  
Fluid Pressure ◽  
Cerebral Atrophy ◽  
Normal Pressure ◽  
Idiopathic Normal Pressure Hydrocephalus ◽  
Opening Pressure ◽  
Vp Shunt ◽  
Surgery Patient

Background: Idiopathic Normal-pressure hydrocephalus (iNPH) is characterized by cognitive impairment, gait disturbance, enlarged ventricles with/without cerebral atrophy, with/without urinary incontinence, and normal cerebrospinal fluid pressure. Familial iNPH is very rarely described in the literature. A Canadian family with more than one generation of iNPH has never been described. Methods: Patient 1: 50-year-old female presented with wide-based and magnetic gait, multiple falls with subsequent freezing. LP with large volume tap was performed. Patient had ventriculo peritoneal (VP) shunt surgery. Patient 2: 52 year male (brother): Presented with long-standing cognitive impairment and fatigue. Montreal Cognitive Assessment (MOCA) was performed. Whole exome sequencing(WES) of both siblings as well as an unaffected first cousin was done. The father and grandmother of both patients was diagnosed with iNPH. Results: Patient 1: Opening pressure on LP was 22 cm-H2O. She responded well to large volume tap. She had VP shunt resulting in improved gait. Patient 2: Opening pressure on LP was 16cm-H2O. CSF flow study was slow for age indicative of NPH. MoCA score was 25/30. WES of patients and unaffected first cousin is underway. Conclusions: We present an undescribed Canadian family with iNPH in more than one generation. WES is underway for better understanding of genetic predesposition and inheritance of familial iNPH

scholarly journals Idiopathic normal pressure hydrocephalus. Retrospective review of pathogenesis and modern theories

2020 ◽  
pp. 146-155
Author(s):  
Г.В. Гаврилов ◽  
А.В. Станишевский ◽  
Б.В. Гайдар ◽  
Д.В. Свистов
Keyword(s):  
Cerebrospinal Fluid ◽  
Cognitive Impairment ◽  
Normal Pressure Hydrocephalus ◽  
Retrospective Review ◽  
Normal Pressure ◽  
Idiopathic Normal Pressure Hydrocephalus ◽  
Ventricular Enlargement ◽  
Csf Pressure ◽  
Morphological Studies ◽  
Disease Mechanisms

Идиопатическая нормотензивная гидроцефалия - хроническое прогрессирующее дегенеративное заболевание головного мозга, характеризующееся изменением конфигурации боковых желудочков и других ликворсодержащих пространств головного мозга на фоне нормального давления ликвора, проявляющееся клинически триадой симптомов: нарушением походки, развитием деменции и нарушением мочеиспускания. Патофизиология и патоморфогенез этого заболевания до конца не ясны. С появлением термина и описания клинической картины нормотензивной гидроцефалии в 1964 г. S. Hakim выполнено множество экспериментальных, морфологических и клинических исследований, направленных на выяснение ключевых звеньев патогенеза заболевания. В представленной работе приведена ретроспектива взглядов на закономерности патогенеза идиопатической нормотензивной гидроцефалии, анализируются современные исследования, посвящённые данной проблеме, а также обобщены и сформулированы основные теории, касающиеся ключевых звеньев патологического процесса. Idiopathic normal pressure hydrocephalus is a chronic, progressive degenerative brain disease characterized by ventricular enlargement disproportionate to other cerebrospinal fluid (CSF) spaces with normal CSF pressure. This disease presents with gait disturbance, cognitive impairment, and incontinence. The pathophysiology and morphogenesis of this condition are not well studied. Since the first description by S. Hakim in 1964, a number of experimental and morphological studies have focused on investigation of the disease mechanisms. This review retrospectively analyzed and summarized principal ideas about the pathogenesis of idiopathic normal pressure hydrocephalus.

Normal pressure hydrocephalus. Influences on cerebral hemodynamic and cerebrospinal fluid pressure-chemical autoregulation

1984 ◽  
Vol 21 (2) ◽  
pp. 195-203 ◽  
Author(s):  
John S. Meyer ◽  
Hisao Tachibana ◽  
Jeffrey P. Hardenberg ◽  
Richard E. Dowell ◽  
Yasuhisa Kitagawa ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Normal Pressure Hydrocephalus ◽  
Fluid Pressure ◽  
Normal Pressure ◽  
Cerebrospinal Fluid Pressure ◽  
Cerebral Hemodynamic ◽  
Pressure Chemical

Salomón Hakim, MD (1922–2011): A honeymoon with Neurosurgery

2021 ◽  
pp. 096777202110540
Author(s):  
Daniel Jaramillo-Velásquez ◽  
Fernando Hakim ◽  
Andreas K Demetriades
Keyword(s):  
Cerebrospinal Fluid ◽  
Normal Pressure Hydrocephalus ◽  
Medical Literature ◽  
Medical Physics ◽  
Fluid Pressure ◽  
Normal Pressure ◽  
Empirical Knowledge ◽  
Cranial Cavity ◽  
The Social ◽  
Programmable Valve

Salomón Hakim (1922–2011) was a Colombian neurosurgeon and brain scientist This biography examines the social and cultural background through which he emerged as an inquisitive and multi-dimensional surgeon-scientist, and his lifelong contributions to the specialty of neurosurgery. With empirical knowledge in applied medical physics, electronics, electricity and chemistry, he understood the paradoxical phenomenon of symptomatic hydrocephalus with normal cerebrospinal fluid pressure. This ultimately led Hakim to describe in exquisite detail the physics of the cranial cavity and brain hydrodynamics. His name is intertwined with the identification of the entity of a syndrome which had not previously been addressed in the medical literature: Normal Pressure Hydrocephalus (Hakim's syndrome). Additionally, he designed and built various models of valved shunting devices to treat the condition (eg the Hakim programmable valve). Through his selflessness and cogent work, Hakim left a legacy and intellectual heritage that has allowed many colleagues worldwide to save thousands of lives who would be otherwise condemned to oblivion.

scholarly journals Performance of the fixed pressure valve with antisiphon device SPHERA® in the treatment of normal pressure hydrocephalus and prevention of overdrainage

2015 ◽  
Vol 74 (1) ◽  
pp. 55-61 ◽  
Author(s):  
Renan M. Pereira ◽  
Mariane T. Suguimoto ◽  
Matheus F. Oliveira ◽  
Juliana B. Tornai ◽  
Ricardo A. Amaral ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Urinary Incontinence ◽  
Clinical Improvement ◽  
Normal Pressure Hydrocephalus ◽  
Normal Pressure ◽  
Antisiphon Device

ABSTRACT Normal pressure hydrocephalus (NPH) is characterized by the triad of gait apraxia, dementia and urinary incontinence associated with ventriculomegaly and normal pressure of cerebrospinal fluid. Treatment is accomplished through the implantation of a ventricular shunt (VPS), however some complications are still frequent, like overdrainage due to siphon effect. This study analyses the performance of a valve with anti-siphon device (SPHERA®) in the treatment of patients with NPH and compares it with another group of patients with NPH who underwent the same procedure without anti-siphon mechanism (PS Medical® valve). 30 patients were consecutively enrolled in two groups with 15 patients each and followed clinically and radiologically for 1 year. Patients submitted to VPS with SPHERA® valve had the same clinical improvement as patients submitted to VPS with PS Medical®. However, complications and symptomatology due to overdrainage were significantly lower in SPHERA® group, suggesting it as a safe tool to treat NPH.

Unusual side effects of levetiracetam

2021 ◽  
Vol 14 (4) ◽  
pp. e242496
Author(s):  
Samih Badarny ◽  
yazid Badarny ◽  
Fatima Mihilia
Keyword(s):  
Cerebrospinal Fluid ◽  
Cognitive Impairment ◽  
Side Effects ◽  
Normal Pressure Hydrocephalus ◽  
Clinical Condition ◽  
Marked Improvement ◽  
Normal Pressure ◽  
Cognitive Status ◽  
Walking Balance ◽  
Cognition Impairment

We present a 75-year-old man who was admitted to our hospital due to 4 months of general deterioration, gait disturbance and cognition impairment which appeared very close to the start of levetiracetam (LEV) as a new antiepileptic drug. Brain CT shows central and less peripheral atrophy of brain, and diagnosis of normal pressure hydrocephalus was raised; however, removal of 30 cc of cerebrospinal fluid (CSF) by lumbar puncture in order to amend walking did not lead to gait improvement. After excluding metabolic, vascular, infection, inflammatory and other reasons explaining his status. Thinking that may be any correlation between LEV added in the last months and his clinical condition, we stopped LEV. Several days after that, there is marked improvement in his general sensation, alertness and cognitive status and there is marked improvement in walking balance to the point of being able to walk without the use of walker or cane or help from other person. Certain cognitive impairment and gait difficulties are not known as side effects of LEV treatment.

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