{"title":"Genetics of Parkinson's Disease: state-of-the-art and role in clinical settings.","authors":"Jarosław Dulski, Owen A Ross, Zbigniew K Wszolek","doi":"10.5603/pjnns.97806","DOIUrl":"10.5603/pjnns.97806","url":null,"abstract":"<p><strong>Introduction: </strong>Advances in sequencing technologies have enabled extensive genetic testing on an individual basis. Genome-wide association studies (GWAS) have provided insight into the pathophysiology of PD. Additionally, direct-to-consumer genetic testing has enabled the identification of genetic diseases and risk factors without genetic counselling. As genetics increasingly permeates clinical practice, this paper aims to summarise the most important information on genetics in PD forclinical practitioners.</p><p><strong>State-of-the-art: </strong>LRRK2 mutations may be found in c.1% of all PD patients with an indistinguishable phenotype from sporadic PD. LRRK2-PD is more prevalent in patients with a positive family history (5-6%) and among certain populations (e.g. up to 41% in North Africans and Ashkenazi Jews). Other familial forms include PRKN (patients with early onset, EOPD), VPS35 (Western European ancestry), PINK1 (EOPD), DJ-1 (EOPD), and SNCA. GBA mutations are found in a large number of PD patients and are associated with faster progression and a poorer prognosis. GWAS have identified 90 genetic risk variants for developing PD and several genetic modifiers for the age at onset, disease progression, and response to treatment.</p><p><strong>Clinical implications: </strong>Multigene panels using next-generation sequencing (NGS) are the first choice for genetic testing in clinical settings. Whole exome sequencing is increasingly being used, particularly as the second-tier testing in patients with negative results of multigene panels. NGS may not detect accurately copy number variants (CNV), meaning that additional analysis is warranted. In a case of a variant of unknown significance (VUS), we suggest firstly searching the up-to-date literature. Segregation studies and in silico predictions may shed more light on the character of the VUS; however, functional studies remain the gold standard. Several interventional clinical trials are active for carriers of LRRK2 and/or GBA mutations.</p><p><strong>Future directions: </strong>Application of artificial intelligence and machine learning will enable high-throughput analysis of large sets of multimodal data. We speculate that, in the future, the treatment landscape for PD will be similar to that in oncological conditions, in which the presence of certain gene mutations or gene overexpression determines the prognosis and treatment decision-making.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":"38-46"},"PeriodicalIF":2.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139087803","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Anna K Szewczyk, Anna Jamroz-Wiśniewska, Klara Gonet, Konrad Rejdak
{"title":"Translation and cross-cultural adaptation of Polish version of Neuropathic Pain Questionnaire (NPQ-PL) and its comparisons with different questionnaires.","authors":"Anna K Szewczyk, Anna Jamroz-Wiśniewska, Klara Gonet, Konrad Rejdak","doi":"10.5603/pjnns.96769","DOIUrl":"10.5603/pjnns.96769","url":null,"abstract":"<p><strong>Aim of the study: </strong>The aim of this study was to assess the validity and reliability of the Polish version of the Neuropathic Pain Questionnaire (NPQ-PL), and to compare it to other diagnostic tools.</p><p><strong>Clinical rationale for the study: </strong>Neuropathic pain is a burdensome condition, of which the exact prevalence is difficult to estimate. During initial screening, pain questionnaires are helpful in alerting clinicians about the need for further evaluation.</p><p><strong>Material and methods: </strong>The NPQ-PL has been developed following the guidelines for translation and cultural adaptation. A total of 140 patients with chronic pain (ChP), 90 with neuropathic pain (NP), and 50 with nociceptive pain (NoP), were enrolled into this study.</p><p><strong>Results: </strong>The study group consisted of 60.71% women and 39.29% men; the mean age of patients (standard deviation, SD) was 53.22 years (15.81), and the average NPQ-PL score (SD) was 0.49 (1.27). Statistically significant relationships were found between higher age distribution and greater pain intensity in the NP group compared to the NoP group. There were also significant differences in pain levels between people of different ages, with the predominance in the elderly. Cronbach's alpha coefficient of the whole questionnaire was 0.85 and the intraclass correlation coefficient (ICC) for test-retest reliability was 0.635. Using receiver-operating characteristic (ROC) curve analysis, the area under the curve (AUC) was 0.97 and the best cut-off value was 0.002, which resulted in the highest sensitivity (93.3%) and specificity (96.0%).</p><p><strong>Conclusions and clinical implications: </strong>The NPQ-PL is a valid tool for discriminating between neuropathic and nociceptive pain. It can be used by physicians of various disciplines when assessing patients with ChP of various origins.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":"66-74"},"PeriodicalIF":2.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139087804","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Minimally invasive transforaminal lumbar interbody fusion (MIS TLIF) in treatment of degenerative diseases of lumbosacral spine compared to modified open TLIF: a prospective randomised controlled study.","authors":"Roman Kalina","doi":"10.5603/pjnns.97784","DOIUrl":"10.5603/pjnns.97784","url":null,"abstract":"<p><strong>Introduction: </strong>The aim of this study was to determine the clinical and radiological outcomes of minimally invasive transforaminal lumbar interbody fusion (MIS TLIF) compared to modified open TLIF via the Wiltse approach for treatment of degenerative diseases of the lumbosacral region. The results were evaluated over a post-operative period of 48 months.</p><p><strong>Material and method: </strong>Radiological data and medical records of patients who underwent MIS TLIF and modified open TLIF between May 2017 and May 2021 were reviewed. Parameters monitored to evaluate the surgical results were: clinical status, operation time, blood loss, radiation dose to patient, day of discharge, analgesic consumption, fusion, and complications rate. For functional assessment, the Visual Analogue Scale for back pain (VAS-BP), VAS for leg pain (VAS-LP), Oswestry Disability Index (ODI), Patient Satisfaction Rate (PSR), and the complication rate were used.</p><p><strong>Results: </strong>This study included 57 patients randomly divided into two groups: 30 operated on using the MIS TLIF technique, and 27 operated on using the modified open TLIF technique via the Wiltse approach. 48-month follow-up rates were similar for the two cohorts. Patients did not differ significantly at baseline in terms of ODI, VAS-BP, or VAS-LP. Perioperatively, MIS TLIF was associated with significantly less blood loss (167.3 ± 80.0 vs. 297.9 ± 81.5 ml, p = 1.1E-05), slightly longer procedures (185.7 ± 45.2 vs. 183.1 ± 66.4 minutes, p = 0.76), a lower radiation dose (MIS 16.9 ± 7.1 vs. 22.0 ± 9.7 mGy OPEN p = 0.012), and shorter hospitalisations (MIS 5.9 ± 1.8 vs. 7.7 ± 1.6 days OPEN). The most common complication was radiculitis, which accounted for 33% and 37% in the MIS and the TLIF groups, respectively. The second most common complication was malposition of the fixation material, which accounted for 18.5% in the TLIF group and 20% in the MIS group. The level of fusion achieved was 92.6% in the MIS group versus 92.3% in the TLIF group. There was lower consumption of analgesics in MIS. Patient Satisfaction Rate (PSR) was 90%.</p><p><strong>Conclusions: </strong>Clinical and radiological outcomes after MIS TLIF in patients with degenerative disease of the lumbosacral region are generally favourable. MIS TLIF was associated with decreased blood loss perioperatively, a lower radiation dose and an earlier discharge, but there was no difference between MIS TLIF and modified open TLIF in 48-month outcomes in terms of disability, back pain, leg pain, quality of life, or patient satisfaction rate or complication rate. Although the differences taper off over time, MIS TLIF has undeniable advantages in the perioperative and early postoperative periods.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":"503-511"},"PeriodicalIF":2.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141889793","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Updates on pharmacological treatment for Alzheimer's disease: response to Letter to the Editors.","authors":"Philip W Tipton","doi":"10.5603/pjnns.98249","DOIUrl":"10.5603/pjnns.98249","url":null,"abstract":"","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":"142-143"},"PeriodicalIF":2.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138808358","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Monika Figura, Joanna Przytycka, Sebastian Dzierzęcki, Mateusz Szumilas, Stanisław Szlufik, Łukasz Milanowski, Maria Kłoda, Karolina Duszyńska-Wąs, Renata Kowalska-Taczanowska, Agnieszka Drzewińska, Karol Sadowski, Aleksandra Korn, Anna Ziobro, Katarzyna Bochniak, Andrzej Friedman, Mirosław Ząbek, Dariusz Koziorowski
{"title":"Unilateral gamma knife thalamotomy for tremor safety and efficacy in multimodal assessment: a prospective case-control study with two-year follow-up.","authors":"Monika Figura, Joanna Przytycka, Sebastian Dzierzęcki, Mateusz Szumilas, Stanisław Szlufik, Łukasz Milanowski, Maria Kłoda, Karolina Duszyńska-Wąs, Renata Kowalska-Taczanowska, Agnieszka Drzewińska, Karol Sadowski, Aleksandra Korn, Anna Ziobro, Katarzyna Bochniak, Andrzej Friedman, Mirosław Ząbek, Dariusz Koziorowski","doi":"10.5603/pjnns.98157","DOIUrl":"10.5603/pjnns.98157","url":null,"abstract":"<p><strong>Introduction: </strong>Unilateral gamma knife thalamotomy (GKT) is a treatment option for pharmacoresistant tremor of various aetiologies. There have been to date no randomised controlled trials performed to assess its safety and efficacy. Our aim was to summarise a two-year multimodal observation of patients with tremor caused by Parkinson's Disease (PD) or essential tremor (ET).</p><p><strong>Material and methods: </strong>23 patients with PD (n = 12) or ET (n = 11) were included. They underwent assessments before, V0 (n = 23), and 12 months, V12 (n = 23), and 24 months, V24 (n = 15), after unilateral GKT. Patients were assessed with psychological tests and acoustic voice analysis. Tremor assessment was performed with a digitising table using the Fahn-Tolosa-Marin rating scale (FTMRS). The Unified Parkinson's Disease rating scale part III (UPDRS-III) was also used in the PD group. Gait and balance was assessed using clinical tests, stabilometric platform, and treadmill.</p><p><strong>Results: </strong>No side effects were observed in a two-year follow-up. There was no notable deterioration observed in the patients' psychological evaluation, speech, or assessment of gait and balance. The scores were significantly lower (p = 0.01) in parts A and B of FTMRS one year after GKT. In post hoc analysis, the scores did not differ significantly between V0 and V24. In FTMRS part C (activities of daily living), no significant change was observed. There was no significant difference in total UPDRS part III score or in score of UPDRS part III domains 3 and 4 ('tremor at rest' and 'action and postural tremor of hands') between measurements.</p><p><strong>Conclusions: </strong>UGKT may be a safe treatment modality if performed in an experienced centre. Tremor reduction may diminish over time, and UGKT did not lead to cognitive, gait or speech deterioration in a long-term observation.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":"283-291"},"PeriodicalIF":2.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140921789","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Aleksander Osiowski, Kacper Stolarz, Katarzyna Baran, Maksymilian Osiowski, Tomasz Klepinowski, Dominik Taterra
{"title":"Indomethacin-responsive trigeminal autonomic cephalgias: a review of key characteristics and pathophysiology.","authors":"Aleksander Osiowski, Kacper Stolarz, Katarzyna Baran, Maksymilian Osiowski, Tomasz Klepinowski, Dominik Taterra","doi":"10.5603/pjnns.99747","DOIUrl":"10.5603/pjnns.99747","url":null,"abstract":"<p><p>Trigeminal autonomic cephalgias (TACs) are a well-defined subset of uncommon primary headaches that share comparable onset, pathophysiology and symptom patterns. TACs are characterised by the presentation of one-sided and high-intensity trigeminal pain together with unilateral cranial autonomic signs, which can include lacrimation, rhinorrhea, and miosis. The International Classification of Headache Disorders 3rd Edition recognises four different headache entities in this group, with cluster headache as the most recognised among them. Hemicrania continua (HC) and paroxysmal hemicrania (PH) are both distinctive cephalgias of which the diagnostic criteria include an absolute response to indomethacin. Consequently, for this reason they are often referred to as 'indomethacin-responsive' TACs. The main focus of this review was to discuss the state of knowledge regarding the pathophysiology and key characteristics of PH and HC. Given the limited understanding of these conditions, and their exceptionally uncommon prevalence, a correct diagnosis can pose a clinical challenge and the search for an effective treatment may be prolonged, which frequently has a serious impact upon patients' quality of life. The information provided in this review is meant to help physicians to differentiate indomethacin-sensitive cephalgias from other distinct headache disorders with a relatively similar clinical presentation, such as cluster headache, trigeminal neuralgia, and various migraine conditions.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":"380-392"},"PeriodicalIF":2.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141458338","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Overlapping challenges of treating cerebrospinal fluid dynamic disorders.","authors":"Olga P Fermo","doi":"10.5603/pjnns.99220","DOIUrl":"10.5603/pjnns.99220","url":null,"abstract":"","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":"58 1","pages":"1-5"},"PeriodicalIF":2.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140022254","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Comparison of autonomic dysfunction in patients with Parkinson's Disease, progressive supranuclear palsy, and multiple system atrophy.","authors":"Jakub J Malkiewicz, Joanna Siuda","doi":"10.5603/pjnns.96939","DOIUrl":"10.5603/pjnns.96939","url":null,"abstract":"<p><strong>Aim of the study: </strong>To assess and compare autonomic nervous system (ANS) dysfunction, especially cardiovascular dysautonomia, in Parkinson's Disease (PD), multiple system atrophy (MSA), progressive supranuclear palsy (PSP), and healthy controls.</p><p><strong>Clinical rationale for the study: </strong>Assessment of ANS can be useful in differential diagnosis. Dysautonomia affects quality of life and can lead to potentially life-threatening complications. There is very little literature data regarding dysautonomia in PSP in relation to other parkinsonian syndromes. This study expands the knowledge about ANS dysfunction in parkinsonisms, especially PSP.</p><p><strong>Material and methods: </strong>Patients with PD, MSA and PSP were prospectively recruited to our study. Demographic data and information about clinical and neuropsychological assessment, medication and comorbidities was collected. SCOPA-AUT questionnaire, 5-minute tilt test, and 5-minute heart rate variability (HRV) analysis in time and frequency domains were used to assess ANS. Analysis was also performed in patients with PSP-RS and PSP-P phenotypes, and in a subgroup with eliminated confounding factors, including age and disease duration.</p><p><strong>Results: </strong>76 PD, 25 PSP, and 12 MSA patients, and 20 controls, were included. Symptoms of dysautonomia revealed by a SCOPA-AUT questionnaire were present in all groups of patients. Urinary dysfunction was more pronounced in atypical parkinsonisms, and cardiovascular symptoms in α-synucleinopathies. HRV was disrupted in all groups of patients. However, when PSP-P and PSP-RS phenotypes were considered, HRV was diminished in PSP-RS, but there were no differences in HRV parameters between PSP-P and controls. Neurogenic orthostatic hypotension was present in 25% of PD and 58% of MSA patients, but it was absent in PSP patients and the control group. 13 PD and nine PSP patients and 16 controls were included in subanalysis. This revealed that PSP, but not PD, patients had significantly more symptoms of dysautonomia and lower HRV indices compared to controls, and that orthostatic hypotension was even more common in PD than in controls.</p><p><strong>Conclusions and clinical implications: </strong>Our study suggests that dysautonomia is common in PD, MSA and PSP, even though it has different profiles in the different diseases. NOH is present in PD and MSA, but not in PSP.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":"193-202"},"PeriodicalIF":2.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139040299","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Adrianna Klajmon, Michał Ząbczyk, Anetta Undas, Joanna Natorska
{"title":"SERPINE1 and MTHFR genetic variants in patients with embolic stroke of undetermined source: links with fibrin clot properties.","authors":"Adrianna Klajmon, Michał Ząbczyk, Anetta Undas, Joanna Natorska","doi":"10.5603/pjnns.99352","DOIUrl":"10.5603/pjnns.99352","url":null,"abstract":"<p><strong>Introduction: </strong>The SERPINE1 c.-820G (4_5), MTHFR gene variants, and unfavourably altered fibrin clot features, have been suspected to be associated with embolic stroke of undetermined source (ESUS). We investigated the SERPINE1 c.-820G (4_5) gene variants alone and coexisting with MTHFR c.665C > T and c.1286A > C gene variants in relation to thrombophilic factors and plasma fibrin clot properties in Polish patients with ESUS.</p><p><strong>Patients and methods: </strong>Unrelated consecutive patients with ESUS (n = 206) were genotyped by TaqMan assay. Thrombophilia screening was performed four weeks or more after a thrombotic event while off oral anticoagulation. Factor VIII (FVIII) activity was determined by a coagulometric assay, while lipoprotein(a) was determined using immunoturbidimetry. We determined fibrin clot permeability (Ks) and clot lysis time (CLT). Apparently healthy individuals without a family history of stroke or venous thromboembolism (n = 30), and patients with a history of atrial fibrillation (n = 25) or carotid artery disease-related stroke (n = 21), served as controls.</p><p><strong>Results: </strong>Among ESUS patients, the SERPINE1 c.-820G (4_5) minor allele frequency was 0.57. There were no differences in common factors associated with thrombophilia among ESUS patients regarding SERPINE1 variants. The overall prevalence of FVIII > 150IU/dL was 26% (n = 53) and elevated FVIII predominated in SERPINE1 variants carriers (n = 45; 84.9%), including 36 (68%) carriers of MTHFR variant. Moreover, 4.3-fold higher Lp(a) levels along with 50% reduced Ks and 46% prolonged CLT were found in patients with mutant SERPINE1 combined with mutant homozygotes in the MTHFR c.665C > T variant compared to the wild type SERPINE1 combined with mutant homozygotes in the MTHFR c.665C >T (P < 0.001).</p><p><strong>Conclusions: </strong>The SERPINE1 c.-820G (4_5) variants carriers have increased FVIII levels, while the SERPINE1 c.-820G (4_5) mutant homozygotes coexisting with MTHFR c.665C > T have more prothrombotic fibrin clot features and elevated Lp(a). Our study underlines the cumulative effect of genetic risk factors in patients with ESUS that might require specific antithrombotic therapy.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":"405-412"},"PeriodicalIF":2.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141306430","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Philip W Tipton, Benjamin D Elder, Petrice M Cogswell, Neill Graff-Radford
{"title":"Normal pressure hydrocephalus, or Hakim syndrome: review and update.","authors":"Philip W Tipton, Benjamin D Elder, Petrice M Cogswell, Neill Graff-Radford","doi":"10.5603/pjnns.97343","DOIUrl":"10.5603/pjnns.97343","url":null,"abstract":"<p><p>This review makes the case that idiopathic normal pressure hydrocephalus (iNPH) is an outdated term because new information indicates that the syndrome is less idiopathic and that the cerebrospinal fluid (CSF) pressure of normal individuals is affected by several factors such as body mass index, age, and sex. Our review updates the epidemiology of iNPH and provides a clinical approach to the management of these patients. All the clinical features of iNPH are common in older individuals, and each has many causes, so the diagnosis is difficult. The first step in reaching an accurate diagnosis is to address the possible contributory factors to the gait abnormality and determine what if any role iNPH may be playing. The two best diagnostic tests are neuroimaging and cerebrospinal fluid (CSF) diversion (large volume lumbar puncture or external lumbar drainage) with pre/post gait evaluation. This review provides an update on the growing evidence that vascular disease, impaired CSF absorption, congenital, and genetic factors all contribute to the pathogenesis of iNPH. We suggest replacing the term iNPH with the term Hakim syndrome (HS) in acknowledgement of the first person to describe this syndrome. Lastly, we discuss the improvements in shunt technology and surgical techniques that have decreased the risks and long-term complications of shunt surgery.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":"8-20"},"PeriodicalIF":2.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138488049","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}