journal
https://read.qxmd.com/read/36971787/sex-hormones-differentially-contribute-to-parkinson-s-disease-in-males-a-multimodal-biomarker-study
#1
JOURNAL ARTICLE
Roberta Bovenzi, Giulia Maria Sancesario, Matteo Conti, Piergiorgio Grillo, Rocco Cerroni, Jacopo Bissacco, Paolo Forti, Emilia Giannella, Massimo Pieri, Silvia Minosse, Valentina Ferrazzoli, Noemi Pucci, Mario Laudazi, Roberto Floris, Francesco Garaci, Mariangela Pierantozzi, Alessandro Stefani, Nicola Biagio Mercuri, Eliseo Picchi, Francesca Di Giuliano, Tommaso Schirinzi
BACKGROUND: Parkinson's disease (PD) presents relevant sex-related differences in epidemiology, pathophysiology, and clinical features, with males being more vulnerable to the disease. Sex hormones might have a putative role as the experimental models suggest; however, human-based evidence is scarce. Here we integrated multimodal biomarkers to investigate the relationships between circulating sex hormones and clinical-pathological features in PD male patients. METHODS: A cohort of 63 male PD patients underwent comprehensive clinical evaluation of motor and non-motor disturbances; measurement of estradiol, testosterone, follicle-stimulating hormone (FSH), and luteinizing hormone (LH) blood levels; CSF assay of total α-synuclein, amyloid-β-42, amyloid-β-40, total tau, and phosphorylated-181-tau levels...
March 27, 2023: European Journal of Neurology
https://read.qxmd.com/read/36971767/fundus-imaging-and-perimetry-in-patients-with-idiopathic-intracranial-hypertension-an-intermethod-and-interrater-validity-study
#2
JOURNAL ARTICLE
Zainab Rissan, Nadja Skadkaer Hansen, Louise Ninett Carlsen, Johanne Juhl Korsbaek, Rigmor Højland Jensen, Steffen Hamann, Henrik Winther Schytz
BACKGROUND: There is a need to improve the diagnostic process of patients suspected of papilledema. In patients with known or suspected idiopathic intracranial hypertension we validated a fundus imaging and perimetric visual field assessment system (COMPASS) performed at a headache centre in comparison to an assessment (Topcon plus OCTOPUS) at a neuroophthalmological clinic. METHODS: For intermethod assessment, blinded fundus images and perimetry from COMPASS versus Topcon plus OCTOPUS were assessed by a neuroophthalmologist...
March 27, 2023: European Journal of Neurology
https://read.qxmd.com/read/36971736/interplay-between-speech-and-gait-variables-in-pd-patients-treated-with-stn-dbs-a-long-term-instrumental-assessment
#3
JOURNAL ARTICLE
Francesco Cavallieri, Annalisa Gessani, Andrea Merlo, Isabella Campanini, Carla Budriesi, Valentina Fioravanti, Giulia Di Rauso, Alberto Feletti, Benedetta Damiano, Sara Scaltriti, Noemi Guagnano, Elisa Bardi, Maria Giulia Corni, Francesca Antonelli, Francesca Cavalleri, Maria Angela Molinari, Sara Contardi, Elisa Menozzi, Annette Puzzolante, Giuseppe Vannozzi, Elena Bergamini, Giacomo Pavesi, Valérie Fraix, Sara Meoni, Alessandro Fraternali, Annibale Versari, Mirco Lusuardi, Giuseppe Biagini, Serge Pinto, Elena Moro, Franco Valzania
OBJECTIVE: To evaluate correlations between speech and gait parameters in the long-term and under different medication and subthalamic nucleus deep brain stimulation (STN-DBS) conditions in a cohort of advanced Parkinson's Disease (PD) patients. METHODS: This observational study included consecutive PD patients treated with bilateral STN-DBS. Axial symptoms were evaluated using a standardized clinical-instrumental approach. Speech and gait were assessed by perceptual and acoustic analyses and by the instrumented timed up and go test (iTUG) respectively...
March 27, 2023: European Journal of Neurology
https://read.qxmd.com/read/36965018/comment-on-endovascular-therapy-versus-no-endovascular-therapy-in-patients-receiving-best-medical-management-for-acute-isolated-occlusion-of-the-posterior-cerebral-artery-a-systematic-review-and-meta-analysis
#4
LETTER
https://read.qxmd.com/read/36943151/sord-related-peripheral-neuropathy-in-a-french-and-swiss-cohort-clinical-features-genetic-analysis-and-sorbitol-dosage
#5
JOURNAL ARTICLE
Pons Nicolas, Gorka Fernández-Eulate, Antoine Pegat, Marie Théaudin, Guieu Régis, Paolo Ripellino, Devedjian Manon, Mace Patrick, Marion Masingue, Sarah Léonard-Louis, Philipe Petiot, Pauline Roche, Emilien Bernard, Bouchour Françoise, Good Jean-Marc, Annie Verschueren, Aude-Marie Grapperon, Emmanuelle Salort, Grosset Anaïs, Jean-Baptiste Chanson, Aleksandra Nadaj-Pakleza, Anne-Laure Bédat-Millet, Ariane Choumert, Barnier Anne, Hamdi Ghassen, Gaëtan Lesca, Prieur Fabienne, Bruneel Arnaud, Philippe Latour, Tanya Stojkovic, Shahram Attarian, Nathalie Bonello-Palot
BACKGROUND: Biallelic variants in SORD have been reported as one of the main recessive causes for hereditary peripheral neuropathies such as Charcot-Marie-Tooth disease type 2 (CMT2) and distal hereditary motor neuropathy (dHMN) depicting lower limb (LL) weakness and muscular atrophy. In this study, phenotype and genotype landscapes of SORD-related peripheral neuropathies were described in a French and Swiss cohort. Serum sorbitol dosages were used to classify SORD variants. METHODS: Patients followed in neuromuscular reference centres in France and Switzerland were ascertained...
March 21, 2023: European Journal of Neurology
https://read.qxmd.com/read/36943150/novel-partial-deletions-frameshift-and-missense-mutations-of-csf1r-in-patents-with-csf1r-related-leukoencephalopathy
#6
JOURNAL ARTICLE
Takanobu Ishiguro, Takuya Konno, Norikazu Hara, Bin Zhu, Satoshi Okada, Mamoru Shibata, Reiko Saika, Takaya Kitano, Megumi Toko, Tomohisa Nezu, Yuka Hama, Tomoya Kawazoe, Ikuko Takahashi-Iwata, Ichiro Yabe, Kota Sato, Hayato Takeda, Shintaro Toda, Jin Nishimiya, Toshiyuki Teduka, Hiroaki Nozaki, Kensaku Kasuga, Akinori Miyashita, Osamu Onodera, Takeshi Ikeuchi
BACKGROUND: CSF1R-related leukoencephalopathy is an adult-onset leukoencephalopathy caused by mutations in CSF1R. The present study aimed to explore the broader genetic spectrum of CSF1R-related leukoencephalopathy in association with clinical and imaging features. METHODS: Mutational analysis of CSF1R was performed for 100 consecutive patients with adult-onset leukoencephalopathy. Sequence and copy number variation (CNV) analyses of CSF1R were performed. The genomic ranges of the deletions were determined by long-read sequencing...
March 21, 2023: European Journal of Neurology
https://read.qxmd.com/read/36942357/confusion-of-evidence-based-reviews-and-guidelines
#7
LETTER
Günther Deuschl, Angelo Antonini, Joao Costa, Katarzyna Śmiłowska, Daniela Berg, Jean-Christophe Corvol, Giovanni Fabbrini, Joaquim Ferreira, Tom Foltynie, Pablo Mir, Anette Schrag, Klaus Seppi, Pille Taba, Evzen Ruzicka, Marianna Selikhova, Nicholas Henschke, Gemma Villanueva, Elena Moro
No abstract text is available yet for this article.
March 20, 2023: European Journal of Neurology
https://read.qxmd.com/read/36941533/both-perimenstrual-and-non-perimenstrual-migraine-days-respond-to-anti-calcitonin-gene-related-peptide-receptor-antibodies
#8
JOURNAL ARTICLE
Iris E Verhagen, Simone de Vries Lentsch, Britt W H van der Arend, Saskia le Cessie, Antoinette MaassenVanDenBrink, Gisela M Terwindt
BACKGROUND: Anti-CGRP (receptor) antibodies effectively reduce overall migraine attack frequency, but whether there are differences in effect between perimenstrual and non-perimenstrual migraine days has not been investigated. METHODS: We performed a single-arm study among women with migraine. Participants were followed with electronic E-diaries during one (pretreatment) baseline month and 6 months of treatment with either erenumab or fremanezumab. Differences in treatment effect on perimenstrual and non-perimenstrual migraine days were assessed using a mixed effects logistic regression model, with migraine day as dependent variable and treatment, menstrual window and an interaction-term (treatment*menstrual window) as fixed effects and patient as a random effect...
March 20, 2023: European Journal of Neurology
https://read.qxmd.com/read/36940265/real-time-quaking-induced-conversion-assays-for-prions-applying-a-sensitive-but-imperfect-test-in-clinical-practice
#9
JOURNAL ARTICLE
Samuel M Jones, Evelyn B Lazar, Amanda L Porter, Christian C Prusinski, Matthew R Brier, Robert C Bucelli, Gregory S Day
BACKGROUND: Real-time quaking-induced conversion (RT-QuIC) assays offer a sensitive and specific means for detection of prions, although false negative results are recognized in clinical practice. We profile the clinical, laboratory, and pathologic features associated with false negative RT-QuIC assays and extend these to frame the diagnostic approach to patients with suspected prion disease. METHODS: 113 patients with probable or definite prion disease were assessed at Mayo Clinic (Rochester, MN; Jacksonville, FL; Scottsdale, AZ) or Washington University School of Medicine (St...
March 20, 2023: European Journal of Neurology
https://read.qxmd.com/read/36932903/heart-rate-variability-hrv-modification-as-predictive-factor-of-sudden-unexpected-death-in-epilepsy-sudep-how-far-are-we-a-systematic-review-and-meta-analysis
#10
REVIEW
Giacomo Evangelista, Fedele Dono, Stefano Consoli, Jacopo Lanzone, Clarissa Corniello, Mirella Russo, Francesca Anzellotti, Marco Onofrj, Catello Vollono, Stefano L Sensi
INTRODUCTION: Sudden Unexpected Death in Epilepsy (SUDEP) is a sudden, unexpected death in people with epilepsy, with or without evidence of an epileptic seizure. The pathophysiological mechanism underlying the SUDEP appears to be partly associated with an autonomic nervous system (ANS) dysfunction. Heart Rate Variability (HRV) analysis is a reliable non-invasive method for detecting fluctuations in the ANS. In this systematic review, we analyzed the data available in the literature on changes in HRV parameters in patients with SUDEP...
March 18, 2023: European Journal of Neurology
https://read.qxmd.com/read/36930037/status-epilepticus-prognosis-following-levetiracetam-administration-analysis-of-loading-doses
#11
JOURNAL ARTICLE
Ian Kuffer, Jan Novy, Andrea O Rossetti
BACKGROUND: Recommended loading doses of levetiracetam (LEV) for Status epilepticus (SE) treatment increased over time. However, this was not evidence-based, and the benefit of this increase remains unclear. We explored the effect of different LEV loading doses on SE prognosis. METHODS: Retrospective analysis of a SE adult registry (January 2016 - December 2021), including patients receiving LEV as a second line SE treatment. Patients were stratified according to LEV loading doses (threshold: 35mg/kg)...
March 17, 2023: European Journal of Neurology
https://read.qxmd.com/read/36929246/self-reported-restrictions-in-different-life-domains-and-associated-factors-among-people-with-multiple-sclerosis-in-sweden
#12
JOURNAL ARTICLE
Fitsum Sebsibe Teni, Alejandra Machado, Chantelle Murley, Katharina Fink, Hanna Gyllensten, Jessica Dervish, Jan Hillert, Emilie Friberg
BACKGROUND: The heterogeneous symptoms of multiple sclerosis (MS) can considerably impact the lives of people with MS (PwMS). The aim of this study was to describe the extent of restrictions in different life domains that PwMS experience in relation to their symptoms and level of disability. METHODS: A cross-sectional survey was conducted among working-aged PwMS in Sweden. The 4052 participants who answered the questions on restrictions in work and private life domains (family, leisure activities, and contact with friends/acquaintances) were included...
March 16, 2023: European Journal of Neurology
https://read.qxmd.com/read/36920252/impact-of-the-covid-19-pandemic-on-clinical-autonomic-practice-in-europe-a-survey-of-the-european-academy-of-neurology-ean-and-the-european-federation-of-autonomic-societies-efas
#13
JOURNAL ARTICLE
Alessandra Fanciulli, Fabian Leys, Magdalena Krbot Skorić, Diogo Reis Carneiro, Giovanna Calandra-Buonaura, Jennifer Camaradou, Giacomo Chiaro, Pietro Cortelli, Cristian Falup-Pecurariu, Roberta Granata, Pietro Guaraldi, Raimund Helbok, Max J Hilz, Valeria Iodice, Jens Jordan, Evert C A Kaal, Anita Kamondi, Anne Pavy Le Traon, Isabel Rocha, Johann Sellner, Jean Michel Senard, Astrid Terkelsen, Gregor K Wenning, Elena Moro, Thomas Berger, Roland D Thijs, Walter Struhal, Mario Habek
OBJECTIVE: To investigate the impact of the coronavirus-disease-2019 (COVID-19) pandemic on European clinical autonomic practice. METHODS: Eighty-four neurology-driven or interdisciplinary autonomic centers in 22 European countries were invited to fill in a web-based survey between September and November 2021. RESULTS: Forty-six centers completed the survey (55%). During the first pandemic year, the number of performed tilt-table tests, autonomic outpatient and inpatient visits decreased respectively by 50%, 45% and 53%, and every-third center reported major adverse events due to postponed examinations or visits...
March 15, 2023: European Journal of Neurology
https://read.qxmd.com/read/36916670/exercise-induced-muscle-blood-flow-is-decreased-in-cmt1-polyneuropathy-a-power-doppler-analysis
#14
JOURNAL ARTICLE
Orna Gera, Efrat Shavit-Stein, Taly Amichai, Vera Nikitin, Merav Ben David, Lior Greenbaum, Joab Chapman, Amir Dori
OBJECTIVE: Intramuscular blood-flow increases during physical activity and may be quantified immediately following exercise using power-Doppler sonography. Post-exercise intramuscular blood-flow is reduced in patients with muscular dystrophy, associated with disease severity and degenerative changes. It is not known if intramuscular blood-flow is reduced in patients with neuropathy, nor if it correlates with muscle strength and structural changes. We aimed to determine whether blood-flow is reduced in patients with polyneuropathy due to Charcot-Marie-Tooth disease type 1 (CMT1), and to compare more affected distal to less affected proximal muscles...
March 14, 2023: European Journal of Neurology
https://read.qxmd.com/read/36916668/indication-for-molecular-testing-by-multiplex-ligation-dependent-probe-amplification-in-parkinsonism
#15
JOURNAL ARTICLE
E Mutez, M Swiderski, D Devos, C Moreau, G Baille, A Degardin, G Ryckewaert, N Carriere, A Kreisler, C Simonin, N Rouaix, M Tir, P Krystkowiak, N Ramdane, M Génin, B Sablonnière, L Defebvre, V Huin
BACKGROUND: The monogenic forms of Parkinson's disease represent less than 10% of familial cases and a still lower frequency of sporadic cases. However, guidelines to orient genetic testing are lacking. We aim to establish the interest of multiplex ligation-dependent probe amplification as a primary screening test and to propose clinical criteria to guide genetic diagnostic tests for patients with suspected Mendelian Parkinson's disease. METHODS: We recruited 567 patients with parkinsonism from 547 unrelated families and performed two multiplex ligation-dependent probe amplifications for each...
March 14, 2023: European Journal of Neurology
https://read.qxmd.com/read/36916666/letter-to-the-editor-reply-to-finsterer-and-mehri-assessing-post-covid-myopathy-by-mri-requires-large-cohorts-and-comparison-with-a-gold-standard
#16
LETTER
Elena Enax-Krumova, Johannes Forsting, Marlena Rohm, Peter Schwenkreis, Martin Tegenthoff, Christine H Meyer-Frießem, Lara Schlaffke
No abstract text is available yet for this article.
March 14, 2023: European Journal of Neurology
https://read.qxmd.com/read/36915220/nigrosome-1-visibility-and-its-association-with-nigrostriatal-dopaminergic-loss-in-parkinson-s-disease
#17
JOURNAL ARTICLE
Han-Kyeol Kim, Tae Won Kim, Min Seok Baek, Eung Yeop Kim, Young Hee Sung, Jae Hoon Lee, Young Hoon Ryu, Sung Jun Ahn, Han Soo Yoo, Chul Hyoung Lyoo
BACKGROUND: Nigrosome 1 (NG1), a small cluster of dopaminergic cells in the substantia nigra and visible in the susceptibility map weighted MR image (SMwI), is severely affected in Parkinson's disease (PD). However, the degree of nigrostriatal degeneration according to the visibility of NG1 has not yet been well elucidated. METHODS: We consecutively recruited 138 PD and 78 non-neurodegenerative disease (non-ND) patients, who underwent both 18 F-FP-CIT PET and SMwI...
March 13, 2023: European Journal of Neurology
https://read.qxmd.com/read/36912749/impact-of-genetic-polymorphisms-on-the-risk-of-epilepsy-amongst-patients-with-acute-brain-injury-a-systematic-review
#18
REVIEW
Shubham Misra, Terence J Quinn, Guido J Falcone, Vijay K Sharma, Adam de Havenon, Yize Zhao, Ece Eldem, Jacqueline A French, Clarissa Lin Yasuda, Jesse Dawson, David S Liebeskind, Patrick Kwan, Nishant K Mishra
BACKGROUND: The genetics of late seizure or epilepsy secondary to traumatic brain injury (TBI) or stroke is poorly understood. We undertook a systematic review to test the association of single nucleotide polymorphisms (SNPs) with the risk of posttraumatic epilepsy (PTE) and post-stroke epilepsy (PSE). METHODS: We followed methods from our prespecified protocol on PROSPERO to identify indexed articles for this systematic review. We collated the association statistics from the articles to assess the association of SNPs with the risk of epilepsy amongst TBI or stroke patients...
March 13, 2023: European Journal of Neurology
https://read.qxmd.com/read/36912432/a-cerebellar-degeneration-related-protein-2-like-cell-based-assay-for-anti-yo-detection-in-patients-with-paraneoplastic-cerebellar-degeneration
#19
JOURNAL ARTICLE
Kjell Inge Erikstad, Ida Herdlevaer, Elise Marie Peter, Mette Haugen, Cecilie Totland, Christian Vedeler
BACKGROUND: Commercially available tests for Yo antibody detection have low specificity for paraneoplastic cerebellar degeneration (PCD) because these assays use cerebellar degeneration-related protein 2 (CDR2) as antigen, not CDR2-Like (CDR2L). We hypothesized that use of CDR2L cell-based assay (CBA), as an additional screening technique, would increase the accuracy of Yo-PCD diagnosis. METHODS: An in-house CBA to test for anti-CDR2L antibodies was developed and used to screen sera from 48 patients with confirmed anti-Yo associated PCD...
March 13, 2023: European Journal of Neurology
https://read.qxmd.com/read/36912424/identifying-clinical-features-and-blood-biomarkers-associated-with-mild-cognitive-impairment-in-parkinson-s-disease-using-machine-learning
#20
JOURNAL ARTICLE
Xiao Deng, Yilin Ning, Seyed Ehsan Saffari, Bin Xiao, Chenglin Niu, Samuel Yong Ern Ng, Nicole Chia, Xinyi Choi, Dede Liana Heng, Yi Jayne Tan, Ebonne Ng, Zheyu Xu, Kay-Yaw Tay, Wing-Lok Au, Adeline Ng, Eng-King Tan, Nan Liu, Louis C S Tan
BACKGROUND: A broad list of variables associated with mild cognitive impairment (MCI) in Parkinson's Disease (PD) has been investigated separately. However, there is no study including all of them to assess variable importance yet. Shapley variable importance cloud (ShapleyVIC) can robustly assesses variable importance while accounting for correlation between variables. OBJECTIVE: 1) To prioritise the important variables associated with PD-MCI; 2) To explore new blood biomarkers related to PD-MCI...
March 13, 2023: European Journal of Neurology
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