scholarly journals Prevalence of C9ORF72 Expansion in a Large Series of Patients with Idiopathic Normal-Pressure Hydrocephalus

2019 ◽  
Vol 47 (1-2) ◽  
pp. 91-103 ◽  
Author(s):  
Ville E. Korhonen ◽  
Anne M. Remes ◽  
Seppo Helisalmi ◽  
Tuomas Rauramaa ◽  
Anna Sutela ◽  
...  
Keyword(s):  
Normal Pressure Hydrocephalus ◽  
Psychiatric Symptoms ◽  
Age At Onset ◽  
Normal Pressure ◽  
Idiopathic Normal Pressure Hydrocephalus ◽  
Study Cohort ◽  
C9orf72 Expansion ◽  
Personality Changes ◽  
Clinically Significant ◽  
Shunt Response

Background/Aims: The C9ORF72 expansion is known to cause frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). We aim to identify the prevalence of the C9ORF72 expansion in idiopathic normal pressure hydrocephalus (iNPH). Methods: We analysed the C9ORF72 expansion in a large cohort of patients with possible iNPH (n = 487) and cognitively intact elderly controls (n = 432; age > 65 years). Results: While the C9ORF72 expansion was detected in 1.6% (n = 8/487) of cases with possible iNPH, no control subject was found to carry the mutation. The mean age at onset of symptoms of C9ORF72 expansion carriers was 59 years (range: 52–67 years), 11 years less than non-carriers (p = 0.0002). The most frequent initial/main symptom pertained to gait difficulties. Despite identified mutation, only 3 of the patients fulfilled the criteria for the FTLD-ALS spectrum. Clinically significant shunt response was detected in 6 out of 7 shunted C9ORF72 expansion carriers. Conclusion: This is the first study cohort identifying the underlying C9ORF72 expansion in patients with iNPH providing evidence for the potential comorbidity between iNPH and the FTLD-ALS spectrum. Analysis of the C9ORF72 expansion should be considered for patients with probable iNPH presenting with frontal atrophy and personality changes or other severe psychiatric symptoms.

scholarly journals Normalized power variance of eLORETA at high-convexity area predicts shunt response in idiopathic normal pressure hydrocephalus

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Yasunori Aoki ◽  
Hiroaki Kazui ◽  
Ricardo Bruña ◽  
Roberto D. Pascual-Marqui ◽  
Kenji Yoshiyama ◽  
...  
Keyword(s):  
Normal Pressure Hydrocephalus ◽  
Normal Pressure ◽  
Idiopathic Normal Pressure Hydrocephalus ◽  
Power Variance ◽  
Shunt Response

scholarly journals Cerebrospinal Fluid Biomarkers as Predictors of Shunt Response in Idiopathic Normal Pressure Hydrocephalus: A Systematic Review

2017 ◽  
Vol 45 (1) ◽  
pp. 3-10 ◽  
Author(s):  
Tyler Pfanner ◽  
Alexandre Henri-Bhargava ◽  
Stephanie Borchert
Keyword(s):  
Systematic Review ◽  
Cerebrospinal Fluid ◽  
Normal Pressure Hydrocephalus ◽  
Normal Pressure ◽  
Idiopathic Normal Pressure Hydrocephalus ◽  
Future Research ◽  
Csf Biomarkers ◽  
Level Of Evidence ◽  
Shunt Procedure ◽  
Shunt Response

ABSTRACTBackground: The widely accepted treatment for idiopathic normal-pressure hydrocephalus (iNPH) is a cerebrospinal fluid (CSF) diversion shunt procedure, to which approximately 80% of patients will respond. The purpose of this systematic review was to identify which CSF biomarkers have been investigated in predicting shunt responsiveness in iNPH patients, and to analyze the level of evidence for each. Methods: To find all relevant articles, a comprehensive search of Medline, Embase, and PsycINFO was conducted. Results: The literature search identified 344 unique citations, of which 13 studies satisfied the inclusion criteria and were analyzed in our review. These 13 studies reported on 37 unique biomarkers. Conclusions: The available studies suggest that there is evidence for the utility of CSF biomarkers in predicting shunt responsiveness in iNPH patients, though none have been shown to predict shunt response with both high sensitivity and specificity. We found that there is no available evidence for the use of Aβ38, Aβ40, Aβ43, APL1β25, APL1β27, APL1β28, sAPP, aAPPα, sAPPβ, TNF-α, MCP-1, sCD40L, sulfatide, MBP, L-PGDS, cystatin C, transthyretin, TGF-β2, or YKL-40 in predicting shunt response. There is minimal evidence for the use of TGF-β1, TBR-II, homocysteine, and interleukins (particularly IL-1β, IL-6, and IL-10). However, the available evidence suggests that these biomarkers warrant further investigation. Aβ42, tau, p-tau, NFL, and LRG have the greatest amount of evidence for their predictive value in determining shunt responsiveness in iNPH patients. Future research should be guided by, but not limited to, these biomarkers.

scholarly journals High-Convexity Tightness Predicts the Shunt Response in Idiopathic Normal Pressure Hydrocephalus

2016 ◽  
Vol 37 (10) ◽  
pp. 1831-1837 ◽  
Author(s):  
W. Narita ◽  
Y. Nishio ◽  
T. Baba ◽  
O. Iizuka ◽  
T. Ishihara ◽  
...  
Keyword(s):  
Normal Pressure Hydrocephalus ◽  
Normal Pressure ◽  
Idiopathic Normal Pressure Hydrocephalus ◽  
Shunt Response

scholarly journals Elevated CSF LRG and Decreased Alzheimer’s Disease Biomarkers in Idiopathic Normal Pressure Hydrocephalus

2021 ◽  
Vol 10 (5) ◽  
pp. 1105
Author(s):  
Aleksi Vanninen ◽  
Madoka Nakajima ◽  
Masakazu Miyajima ◽  
Tuomas Rauramaa ◽  
Merja Kokki ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Normal Pressure Hydrocephalus ◽  
Brain Biopsy ◽  
Normal Pressure ◽  
Idiopathic Normal Pressure Hydrocephalus ◽  
Potential Biomarker ◽  
Shunt Response ◽  
T Tau ◽  
The Brain

Leucine-rich-alpha-2-glykoprotein (LRG) is suggested as a potential biomarker for idiopathic normal pressure hydrocephalus (iNPH). Our goal was to compare the cerebrospinal fluid (CSF) LRG levels between 119 iNPH patients and 33 age-matched controls and with the shunt responses and the brain biopsy Alzheimer’s disease (AD) pathology among the iNPH patients. CSF LRG, Aβ1-42, P-tau181, and T-tau were measured by using commercial ELISAs. The LRG levels in the CSF were significantly increased in the iNPH patients (p < 0.001) as compared to the controls, regardless of the AD pathology. However, CSF LRG did not correlate with the shunt response in contrast to the previous findings. The CSF AD biomarkers, i.e., Aβ1-42, T-tau, and P-tau correlated with the brain biopsy AD pathology as expected but were systematically lower in the iNPH patients when compared to the controls (<0.001). Our findings support that the LRG levels in the CSF are potentially useful for the diagnostics of iNPH, independent of the brain AD pathology, but contrary to previous findings, not for predicting the shunt response. Our findings also suggest a need for specific reference values of the CSF AD biomarkers for the diagnostics of comorbid AD pathology in the iNPH patients.

Extended Long-Term (> 5 Years) Outcome of Cerebrospinal Fluid Shunting in Idiopathic Normal Pressure Hydrocephalus

Neurosurgery ◽  
2010 ◽  
Vol 67 (2) ◽  
pp. 295-301 ◽  
Author(s):  
Mohammad Javad Mirzayan ◽  
Goetz Luetjens ◽  
Jan Juliaan Borremans ◽  
Jens Peter Regel ◽  
Joachim Kurt Krauss
Keyword(s):  
Cause Of Death ◽  
Normal Pressure Hydrocephalus ◽  
Normal Pressure ◽  
Idiopathic Normal Pressure Hydrocephalus ◽  
Study Cohort ◽  
Long Term Follow Up ◽  
Improvement Index ◽  
Related Mortality

Abstract BACKGROUND Shunt surgery has been established as the only durable and effective treatment for idiopathic normal pressure hydrocephalus. OBJECTIVE We evaluated the “extended” long-term follow-up (&gt; 5 years) in a prospective study cohort who underwent shunting between 1990 and 1995. A secondary objective was to determine the cause of death in these patients. METHODS Fifty-one patients were included after confirmation of the diagnosis by extensive clinical and diagnostic investigations. Surgery included ventriculoatrial or ventriculoperitoneal shunting with differential pressure valves in the majority of patients. For each of the cardinal symptoms, postoperative outcome was assessed separately with the Krauss Improvement Index, yielding a value between 0 (no benefit) and 1 (optimal benefit) for the overall outcome. RESULTS Mean age at surgery was 70.2 years (range, 50–87 years). Thirty patients were women, and 21 were men. Short-term (18.8 ± 16.6 months) follow-up was available for 50 patients. The Krauss Improvement Index was 0.66 ± 0.28. Long-term (80.9 ± 51.6 months) follow-up was available for 34 patients. The Krauss Improvement Index was 0.64 ±0.33. Twenty-nine patients died during the long-term follow-up at a mean age of 75.8 years (range, 55–95 years). The major causes of death were cardiovascular disorders: cardiac failure (n = 7) and cerebral ischemia (n = 12). Other causes were pneumonia (n = 2), acute respiratory distress syndrome (n = 1), pulmonary embolism (n = 1), cancer (n = 2), renal failure (n = 1), and unknown (n = 3). There was no shunt-related mortality. CONCLUSION Idiopathic normal pressure hydrocephalus patients may benefit from shunting over the long term when rigorous selection criteria are applied. Shunt-related mortality is negligible. The main cause of death is vascular comorbidity.

scholarly journals Clinical predictors of shunt response in the diagnosis and treatment of idiopathic normal pressure hydrocephalus: a systematic review and meta-analysis

2021 ◽  
Author(s):  
Santhosh G. Thavarajasingam ◽  
Mahmoud El-Khatib ◽  
Mark Rea ◽  
Salvatore Russo ◽  
Johannes Lemcke ◽  
...  
Keyword(s):  
Systematic Review ◽  
Diagnostic Test ◽  
Normal Pressure Hydrocephalus ◽  
Meta Analysis ◽  
Normal Pressure ◽  
Idiopathic Normal Pressure Hydrocephalus ◽  
Future Research ◽  
Clinical Predictors ◽  
Timed Up And Go ◽  
Shunt Response

Abstract Background Positive shunt response (SR) remains the gold standard for diagnosing idiopathic normal pressure hydrocephalus (iNPH). However, multiple pathologies mimic iNPH symptoms, making it difficult to select patients who will respond to shunt surgery. Although presenting features, extended lumbar drainage (ELD), infusion test (IT), intracranial pressure monitoring (ICPM), and tap test (TT) have been used to predict SR, uncertainty remains over which diagnostic test to choose. Objective To conduct a systematic review and meta-analysis to identify clinical predictors of shunt responsiveness, evaluate their diagnostic effectiveness, and recommend the most effective diagnostic tests. Methods Embase, MEDLINE, Scopus, PubMed, Google Scholar, and JSTOR were searched for original studies investigating clinical predictors of SR in iNPH patients. Included studies were assessed using the QUADAS-2 tool, and eligible studies were evaluated using univariate and bivariate meta-analyses. Results Thirty-five studies were included. Nine studies discussed the diagnostic use of presenting clinical features, 8 studies ELD, 8 studies IT, 11 studies ICPM, and 6 studies TT. A meta-analysis of 21 eligible studies was conducted for TT, ELD, IT, and ICPM. ICPM yielded the highest diagnostic effectiveness, with diagnostic odds ratio (DOR) = 50.9 and area under curve (AUC) = 0.836. ELD yielded DOR = 27.70 and AUC = 0.753, IT had DOR = 5.70 and AUC = 0.729, and TT scored DOR = 3.86 and AUC = 0.711. Conclusion Intraparenchymal ICPM is statistically the most effective diagnostic test, followed by ELD, IT, and lastly TT. Due to the higher accessibility of TT and IT, they are recommended to be used first line, using a timed-up-and-go improvement ≥ 5.6 s or a Rout cut-off range between 13 and 16 mmHg, respectively. Patients who test negative should ideally be followed up with ICPM, using mean ICP wave amplitude $$\ge$$ ≥ 4 mmHg, or 1- to 4-day ELD with an MMSE cut-off improvement $$\ge$$ ≥ 3. Future research must use standardized methodologies for each diagnostic test and uniform criteria for SR to allow better comparison.

scholarly journals Lack of shunt response in suspected idiopathic normal pressure hydrocephalus with Alzheimer disease pathology

2010 ◽  
Vol 68 (4) ◽  
pp. 535-540 ◽  
Author(s):  
Roy Hamilton ◽  
Sunil Patel ◽  
Edward B. Lee ◽  
Eric M. Jackson ◽  
Joanna Lopinto ◽  
...  
Keyword(s):  
Alzheimer Disease ◽  
Normal Pressure Hydrocephalus ◽  
Normal Pressure ◽  
Idiopathic Normal Pressure Hydrocephalus ◽  
Shunt Response ◽  
Alzheimer Disease Pathology
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