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 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.

Overdrainage shunt complications in idiopathic normal-pressure hydrocephalus and lumbar puncture opening pressure

2013 ◽  
Vol 119 (6) ◽  
pp. 1498-1502 ◽  
Author(s):  
Qurat ul Ain Khan ◽  
Robert E. Wharen ◽  
Sanjeet S. Grewal ◽  
Colleen S. Thomas ◽  
H. Gordon Deen ◽  
...  
Keyword(s):  
Lumbar Puncture ◽  
Normal Pressure Hydrocephalus ◽  
Subdural Hematoma ◽  
Normal Pressure ◽  
Idiopathic Normal Pressure Hydrocephalus ◽  
Complication Rates ◽  
Shunt Surgery ◽  
Opening Pressure ◽  
Presenting Symptoms ◽  
Subdural Hematomas

Object Management of idiopathic normal-pressure hydrocephalus (iNPH) is hard because the diagnosis is difficult and shunt surgery has high complication rates. An important complication is overdrainage, which often can be treated with adjustable–shunt valve manipulations but also may result in the need for subdural hematoma evacuation. The authors evaluated shunt surgery overdrainage complications in iNPH and their relationship to lumbar puncture opening pressure (LPOP). Methods The authors reviewed the charts of 164 consecutive patients with iNPH who underwent shunt surgery at their institution from 2005 to 2011. They noted age, sex, presenting symptoms, symptom duration, hypertension, body mass index (BMI), imaging findings of atrophy, white matter changes, entrapped sulci, LPOP, valve opening pressure (VOP) setting, number of valve adjustments, serious overdrainage (subdural hematoma requiring surgery), radiological overdrainage (subdural hematomas or hygroma seen on postoperative imaging), clinical overdrainage (sustained or postural headache), other complications, and improvements in gait, urine control, and memory. Results Eight patients (5%) developed subdural hematomas requiring surgery. All had an LPOP of greater than 160 mm H2O and an LPOP-VOP of greater than 40 mm H2O. Radiological overdrainage was more common in those with an LPOP of greater than 160 mm H2O than in those with an LPOP of less than 160 mm H2O (38% vs 21%, respectively; p = 0.024). The BMI was also significantly higher in those with an LPOP of greater than 160 mm H2O (median 30.2 vs 27.0, respectively; p = 0.005). Conclusions Serious overdrainage that caused subdural hematomas and also required surgery after shunting was related to LPOP and LPOP-VOP, which in turn were related to BMI. If this can be replicated, individuals with a high LPOP should have their VOP set close to the LPOP, or even higher. In doing this, perhaps overdrainage complications can be reduced.

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.

scholarly journals White Matter Characteristics of Cognitive Impairment in Tap-Test Positive Idiopathic Normal Pressure Hydrocephalus: A Diffusion Tensor Tract-Based Spatial Study

2021 ◽  
Vol 15 ◽  
Author(s):  
Yufeng Tang ◽  
Xiaoqin Yuan ◽  
Jinfeng Duan ◽  
Xianwen Zhang ◽  
Jiao Chen ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
White Matter ◽  
Corpus Callosum ◽  
Normal Pressure Hydrocephalus ◽  
Diffusion Tensor ◽  
Normal Pressure ◽  
Idiopathic Normal Pressure Hydrocephalus ◽  
Cingulate Gyrus ◽  
Tap Test ◽  
Cognitive Improvement

The present study was designed to systemically evaluate changes in the diffusion tensor imaging (DTI)-derived parameters of iNPH (idiopathic normal pressure hydrocephalus) patients with different responses to the tap test (TT), and to correlate cognitive impairment with white matter (WM) degeneration. This study included 22 iNPH patients and 14 healthy controls with structural magnetic resonance imaging (MRI) and DTI scanning. DTI was used to explore the differences in fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (AD), and radial diffusivity (RD) for all participants. DTI parameters were evaluated using an ROI (region of interest)-based and tract-based spatial statistics (TBSS) approach. Neuropsychological assessments and the idiopathic normal pressure hydrocephalus grading scoring scale (iNPHGS) were performed. Compared to the TT non-responders, the TT responders group had significantly lower FA values in the corpus callosum, cingulum cingulate gyrus, superior longitudinal fasciculus, and lower AD values in the right cingulum cingulate gyrus and the left posterior thalamic radiation. Besides, the MD values were significantly increased in the corpus callosum, left anterior corona radiata, and the RD values in the corpus callosum and cingulum cingulate gyrus. In addition, the cognitive improvement was negatively correlated with FA of the corpus callosum, cingulum cingulate gyrus, and MD values of the genu of corpus callosum. While, the cognitive improvement was positively related to the AD of the cingulum cingulate gyrus, superior longitudinal, and RD values of the corpus callosum, cingulum cingulate gyrus and uncinate fasciculus. The ROI specific WM lesions in iNPH patients are the underlying basis for cognitive impairment.

scholarly journals Incidence, diagnostic criteria and outcome following ventriculoperitoneal shunting of idiopathic normal pressure hydrocephalus in a memory clinic population: a prospective observational cross-sectional and cohort study

BMJ Open ◽  
2019 ◽  
Vol 9 (12) ◽  
pp. e028103 ◽  
Author(s):  
George Razay ◽  
Melissa Wimmer ◽  
Iain Robertson
Keyword(s):  
Cohort Study ◽  
Cognitive Impairment ◽  
Diagnostic Criteria ◽  
Diagnostic Test ◽  
Normal Pressure Hydrocephalus ◽  
Normal Pressure ◽  
Gait Disorders ◽  
Idiopathic Normal Pressure Hydrocephalus ◽  
Index Test ◽  
Shunt Surgery

ObjectiveTo evaluate diagnostic criteria for idiopathic normal pressure hydrocephalus (INPH) among patients with memory impairment, and to estimate the incidence of INPH.DesignProspective observational cross-section and cohort study of diagnostic accuracy.SettingMemory Disorders Clinic following referral by the medical practitioners.Participants408 consecutive patients enrolled 2010–2014.Outcome measuresReference diagnostic test was the clinical judgement of an experienced specialist based on the presence of cognitive impairment and/or balance and gait disorders in the presence of dilated ventricles. Mini-Mental State Examination (MMSE), Tinetti balance and gait tests were performed before and 12 months after ventriculoperitoneal shunt surgery. The association between reference diagnosis, clinical and brain CT scan measurements was estimated by multivariate Poisson regression. Triage index diagnostic test scores were calculated from the regression coefficients, with diagnostic thresholds selected using receiver operating characteristic analysis.ResultsThe presence of balance and/or gait disorders, especially fear of falling, difficulty standing on toes/heals, urinary disturbances, ventriculomegaly with Evans ratio greater than Combined Diagnostic Threshold (0.377-{Maximum width of posterior horns*0.0054}), strongly predict the diagnosis of INPH; while hallucinations and/or delusions and forgetfulness reduce the likelihood of the diagnosis. This triage index test had high sensitivity (95.2%) and specificity (91.7%). 62 of 408 (15%) participants with cognitive impairment had INPH, an incidence of 11.9/100 000/year and 120/100 000/year over 75 years. 96% of participants following shunting, compared with 45% of the non-shunted, improved by over 25% of available measurable improvement in either MMSE or balance/gait scores (51% difference; 95% CI 28% to 74%; p<0.001), and 56% vs 5% improved by over 50% of maximum in both (51% difference; 95% CI 30% to 73%; p<0.001).ConclusionThe triage index test score is a simple tool that may be useful for physicians to identify INPH diagnoses and need for referral for shunt surgery, which may improve cognitive, balance and gait functioning.

scholarly journals Subdural hematomas in 1846 patients with shunted idiopathic normal pressure hydrocephalus: treatment and long-term survival

2018 ◽  
Vol 129 (3) ◽  
pp. 797-804 ◽  
Author(s):  
Nina Sundström ◽  
Marcus Lagebrant ◽  
Anders Eklund ◽  
Lars-Owe D. Koskinen ◽  
Jan Malm
Keyword(s):  
Adverse Event ◽  
Normal Pressure Hydrocephalus ◽  
Normal Pressure ◽  
Idiopathic Normal Pressure Hydrocephalus ◽  
Csf Shunt ◽  
Opening Pressure ◽  
Term Survival ◽  
Noninvasive Treatment ◽  
Long Term Survival

OBJECTIVESubdural hematoma (SDH) is the most common serious adverse event in patients with shunts. Adjustable shunts are used with increasing frequency and make it possible to noninvasively treat postoperative SDH. The objective of this study was to describe the prevalence and treatment preferences of SDHs, based on fixed or adjustable shunt valves, in a national cohort of patients with shunted idiopathic normal pressure hydrocephalus (iNPH), as well as to evaluate the effect of SDH and treatment on long-term survival.METHODSPatients with iNPH who received a CSF shunt in Sweden from 2004 to 2015 were included in a prospective quality registry (n = 1846) and followed regarding SDH, its treatment, and mortality. The treatment of SDH was categorized into surgery, opening pressure adjustments, or no treatment.RESULTSDuring the study period, the proportion of adjustable shunts increased from 75% to 95%. Ten percent (n = 184) of the patients developed an SDH. In 103 patients, treatment was solely opening pressure adjustment. Surgical treatment was used in 66 cases (36%), and 15 (8%) received no treatment. In patients with fixed shunt valves, 90% (n = 17) of SDHs were treated surgically compared with 30% (n = 49) in patients with adjustable shunts (p < 0.001). There was no difference in long-term patient survival between the SDH and non-SDH groups or between different treatments.CONCLUSIONSSDH remains a common complication after shunt surgery, but adjustable shunts reduced the need for surgical interventions. SDH and treatment did not significantly affect survival in this patient group, thus the noninvasive treatment offered by adjustable shunts considerably reduces the level of severity for this common adverse event.

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