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Annals of Neurology

Kazutaka Sugimoto, Sadahiro Nomura, Satoshi Shirao, Takao Inoue, Hideyuki Ishihara, Reo Kawano, Akiko Kawano, Fumiaki Oka, Eiichi Suehiro, Hirokazu Sadahiro, Mizuya Shinoyama, Takayuki Oku, Yuichi Maruta, Yuya Hirayama, Koichiro Hiyoshi, Miwa Kiyohira, Hiroshi Yoneda, Koki Okazaki, Jens P Dreier, Michiyasu Suzuki
OBJECTIVE: Traditionally, angiographic vasospasm (aVS) has been thought to cause delayed cerebral ischemia (DCI) after aneurysmal subarachnoid hemorrhage (aSAH). However, successful treatment of aVS alone does not result in improved neurological outcome. Therefore, there may be other potential causes of poor neurological outcome including spreading depolarization (SD). A recent study showed beneficial effects of cilostazol on DCI and neurological outcome. The present prospective clinical trial and experimental study focused on effects of cilostazol on SDs...
October 20, 2018: Annals of Neurology
Lucy Norcliffe-Kaufmann, Jose-Alberto Palma, Horacio Kaufmann
No abstract text is available yet for this article.
October 20, 2018: Annals of Neurology
Pauline Balagny, Ruben Wanono, Marie-Pia d'Ortho, Emmanuelle Vidal-Petiot
No abstract text is available yet for this article.
October 20, 2018: Annals of Neurology
Ninfa Amato, Mauro Manconi, Jens C Möller, Simone Sarasso, Paolo Stanzione, Claudio Staedler, Alain Kaelin-Lang, Salvatore Galati
OBJECTIVE: The spectrum of clinical symptoms changes during the course of Parkinson's disease. Levodopa therapy, while offering remarkable control of classical motor symptoms, causes abnormal involuntary movements as the disease progresses. These levodopa-induced dyskinesias (LIDs) have been associated with abnormal cortical plasticity. Since slow wave activity (SWA) of nonrapid eye movement (NREM) sleep underlies adjustment of cortical excitability, we sought to elucidate the relationship between this physiological process and LIDs...
October 17, 2018: Annals of Neurology
J D Lang, K Kostev, M Dogan Onugoren, S Gollwitzer, W Graf, T Müller, D G Olmes, H M Hamer
OBJECTIVE: Despite bioequivalence, the exchangeability of antiepileptic drugs in clinical settings is disputed. Therefore, we investigated the risk for recurrent seizures after switching the manufacturer of the same drug in a large German cohort. METHODS: Anonymous patient data from practice neurologists throughout Germany between 2011 and 2016 were collected using the IMS Disease Analyzer database (Quintiles IMS, Frankfurt, Germany). People with epilepsy were included if at least two prescriptions within 360, and one within 180 days prior to the index date were available...
October 8, 2018: Annals of Neurology
Kyle A Metz, Xinchen Teng, Isabelle Coppens, Heather M Lamb, Bart E Wagner, Jill A Rosenfeld, Xianghui Chen, Yu Zhang, Hee Jong Kim, Michael E Meadow, Tim Sen Wang, Edda D Haberlandt, Glenn W Anderson, Esther Leshinsky-Silver, Weimin Bi, Thomas C Markello, Marsha Pratt, Nawal Makhseed, Adolfo Garnica, Noelle R Danylchuk, Thomas A Burrow, Parul Jayakar, Dianalee McKnight, Satish Agadi, Hatha Gbedawo, Christine Stanley, Michael Alber, Isabelle Prehl, Katrina Peariso, Min Tsui Ong, Santosh R Mordekar, Michael J Parker, Daniel Crooks, Pankaj B Agrawal, Gerard T Berry, Tobias Loddenkemper, Yaping Yang, Gustavo H B Maegawa, Abdel Aouacheria, Janet G Markle, James A Wohlschlegel, Adam L Hartman, J Marie Hardwick
OBJECTIVE: Several small case series identified KCTD7 mutations in patients with a rare autosomal recessive disorder designated progressive myoclonic epilepsy (EPM3) and neuronal ceroid lipofuscinosis (CLN14). Despite the name KCTD (potassium channel tetramerization domain), KCTD protein family members lack predicted channel domains. We sought to translate insight gained from yeast studies to uncover disease mechanisms associated with deficiencies in KCTD7 of unknown function. METHODS: Novel KCTD7 variants in new and published patients were assessed for disease causality using genetic analyses, cell-based functional assays of patient fibroblasts and knockout yeast, and electron microscopy of patient samples...
October 8, 2018: Annals of Neurology
De-Cai Tian, Kaibin Shi, Zilong Zhu, Jia Yao, Xiaoxia Yang, Lei Su, Sheng Zhang, Meixia Zhang, Rayna J Gonzales, Qiang Liu, DeRen Huang, Michael F Waters, Kevin N Sheth, Andrew F Ducruet, Ying Fu, Min Lou, Fu-Dong Shi
OBJECTIVE: The present study was undertaken to determine the efficacy of coadministration of fingolimod with alteplase in acute ischemic stroke patients in a delayed time window. METHODS: This was a prospective, randomized, open-label, blinded endpoint clinical trial, enrolling patients with internal carotid artery or middle cerebral artery proximal occlusion within 4.5 to 6 hours from symptom onset. Patients were randomly assigned to receive alteplase alone or alteplase with fingolimod...
October 8, 2018: Annals of Neurology
Saravanan S Karuppagounder, Lauren Alin, Yingxin Chen, David Brand, Megan W Bourassa, Kristen Dietrich, Cassandra M Wilkinson, Colby A Nadeau, Amit Kumar, Steve Perry, John T Pinto, Victor Darley-Usmar, Stephanie Sanchez, Ginger L Milne, Domenico Pratico, Theodore R Holman, S Thomas Carmichael, Giovanni Coppola, Frederick Colbourne, Rajiv R Ratan
OBJECTIVES: N-acetylcysteine (NAC) is a clinically approved thiol-containing redox modulatory compound currently in trials for many neurological and psychiatric disorders. Although generically labeled as an "antioxidant", poor understanding of its site(s) of action is a barrier to its use in neurological practice. Here, we examined the efficacy and mechanism of action of NAC in rodent models of hemorrhagic stroke. METHODS: Hemin was used to model ferroptosis and hemorrhagic stroke in cultured neurons...
October 7, 2018: Annals of Neurology
Odelya E Pagovich, Mary L Vo, Zijun Zhao, Ioannis N Petropoulos, Michelle Yuan, Buntitar Lertsuwanroj, Jessica Ciralsky, Edward Lai, Szilard Kiss, Donald J D'Amico, Jason G Mezey, Rayaz A Malik, Ronald G Crystal
No abstract text is available yet for this article.
October 7, 2018: Annals of Neurology
Alexander Maxan, Sarah Mason, Martine Saint-Pierre, Emma Smith, Aileen Ho, Tim Harrower, Colin Watts, Yen Tai, Nicola Pavese, Julie C Savage, Marie-Ève Tremblay, Peter Gould, Anne E Rosser, Stephen B Dunnett, Paola Piccini, Roger A Barker, Francesca Cicchetti
For patients with incurable neurodegenerative disorders such as Huntington's (HD) and Parkinson's disease, cell transplantation has been explored as a potential treatment option. Here we present the first clinico-pathological study of a patient with HD in receipt of cell-suspension striatal allografts who took part in the NEST-UK multi-centre clinical transplantation trial. Using various immunohistochemical techniques, we found a discrepancy in the survival of grafted projection neurons with respect to grafted interneurons as well as a major ongoing inflammatory and immune responses to the grafted tissue with evidence of mutant huntingtin aggregates within the transplant area...
October 4, 2018: Annals of Neurology
Maureen S Mulhern, Constance Stumpel, Nicholas Stong, Han G Brunner, Louise Bier, Natalie Lippa, James Riviello, Rob P W Rouhl, Marlies Kempers, Rolph Pfundt, Alexander P A Stegmann, Mary K Kukolich, Aida Telegrafi, Anna Lehman, Elena Lopez-Rangel, Nada Houcinat, Magalie Barth, Nicolette den Hollander, Mariette Jv Hoffer, Sarah Weckhuysen, Jolien Roovers, Tania Djemie, Diana Barca, Berten Ceulemans, Dana Craiu, Johannes R Lemke, Christian Korff, Heather C Mefford, Candace T Meyers, Zsuzsanna Siegler, Susan M Hiatt, Gregory M Cooper, E Martina Bebin, Lot Snijders-Blok, Hermine E Veenstra-Knol, Evan H Baugh, E H Brilstra, Catharina M L Volker-Touw, Ellen van Binsbergen, Anya Revah-Politi, Elaine Pereira, Danielle McBrian, Mathilde Pacault, Bertrand Isidor, Cedric Le Caignec, Brigitte Gilbert-Dussardier, Frederic Bilan, Erin L Heinzen, David B Goldstein, Servi J C Stevens, Tristan T Sands
NBEA is a candidate gene for autism, and de novo variants have been reported in neurodevelopmental disease (NDD) cohorts. However, NBEA has not been rigorously evaluated as a disease gene, and associated phenotypes have not been delineated. We identified 24 de novo NBEA variants in patients with NDD, establishing NBEA as an NDD gene. Most patients had epilepsy with onset in the first few years of life, often characterized by generalized seizure types, including myoclonic and atonic seizures. Our data show a broader phenotypic spectrum than previously described, including a Myoclonic-Astatic Epilepsy (MAE)-like phenotype in a subset of patients...
September 30, 2018: Annals of Neurology
Prashanthi Vemuri, Timothy G Lesnick, Scott A Przybelski, Jonathan Graff-Radford, Robert I Reid, Val J Lowe, Samantha M Zuk, Matthew L Senjem, Christopher G Schwarz, Jeffrey L Gunter, Kejal Kantarci, Mary M Machulda, Michelle M Mielke, Ronald C Petersen, David S Knopman, Clifford R Jack
OBJECTIVE: Recent availability of amyloid and tau PET has provided us with a unique opportunity to measure the association of systemic vascular health with brain health after accounting for the impact of AD pathologies. We wanted to quantify early cerebrovascular health related MRI brain measures (structure, perfusion, microstructural integrity) and evaluate their utility as a biomarker for cerebrovascular health. METHODS: We used two independent samples (Discovery: n= 390; Validation: n=1035) of individuals, aged ≥60 years, along the cognitive continuum with imaging from the population-based sample of Mayo Clinic Study of Aging...
September 28, 2018: Annals of Neurology
David Bergeron, Maria L Gorno-Tempini, Gil D Rabinovici, Miguel A Santos-Santos, William Seeley, Bruce L Miller, Yolande Pijnenburg, M Antoinette Keulen, Colin Groot, Bart N M van Berckel, Wiesje M van der Flier, Philip Scheltens, Jonathan D Rohrer, Jason D Warren, Jonathan M Schott, Nick C Fox, Raquel Sanchez-Valle, Oriol Grau-Rivera, Ellen Gelpi, Harro Seelaar, Janne M Papma, John C van Swieten, John R Hodges, Cristian E Leyton, Olivier Piguet, Emily J Rogalsky, Marsel M Mesulam, Lejla Koric, Kristensen Nora, Jérémie Pariente, Bradford Dickerson, Ian R Mackenzie, Ging-Yuek R Hsiung, Serge Belliard, David J Irwin, David A Wolk, Murray Grossman, Matthew Jones, Jennifer Harris, David Mann, Julie S Snowden, Patricio Chrem-Mendez, Ismael L Calandri, Alejandra A Amengual, Carole Miguet-Alfonsi, Eloi Magnin, Giuseppe Magnani, Roberto Santangelo, Vincent Deramecourt, Florence Pasquier, Niklas Mattsson, Christer Nilsson, Oskar Hansson, Julia Keith, Mario Masellis, Sandra E Black, Jordi A Matías-Guiu, María-Nieves Cabrera-Martin, Claire Paquet, Julien Dumuirger, Marc Teichmann, Marie Sarazin, Michel Bottlaender, Bruno Dubois, Christopher C Rowe, Victor L Villemagne, Rik Vandenberghe, Elias Granadillo, Edmond Teng, Mario Mendez, Philipp T Meyer, Lars Frings, Alberto Lleó, Rafael Blesa, Juan Fortea, Sang Won Seo, Janine Diehl-Schmid, Timo Grimmer, Kristian Steen Frederiksen, Pascual Sánchez-Juan, Gaël Chételat, Willemijn Jansen, Rémi W Bouchard, Laforce Robert, Pieter Jelle Visser, Rik Ossenkoppele
OBJECTIVE: To estimate the prevalence of amyloid-positivity, defined by PET/CSF biomarkers and/or neuropathological examination, in primary progressive aphasia (PPA) variants. METHODS: We conducted a meta-analysis with individual participant data from 1,251 patients diagnosed with PPA (including logopenic [lvPPA, n=443], non-fluent [nfvPPA, n=333], semantic [svPPA, n=401] and mixed/unclassifiable [PPA-M/U, n=74] variants of PPA) from 36 centers, with a measure of amyloid-β pathology (CSF [n=600]), PET [n=366] and/or autopsy [n=378]) available...
September 26, 2018: Annals of Neurology
Georgios Tsivgoulis, Duncan Wilson, Aristeidis H Katsanos, João Sargento-Freitas, Cláudia Marques-Matos, Elsa Azevedo, Tomohide Adachi, Christian von der Brelie, Yoshifusa Aizawa, Hiroshi Abe, Hirofumi Tomita, Ken Okumura, Joji Hagii, David J Seiffge, Vasileios-Arsenios Lioutas, Christopher Traenka, Panayiotis Varelas, Ghazala Basir, Christos Krogias, Jan C Purrucker, Vijay K Sharma, Timolaos Rizos, Robert Mikulik, Oluwaseun A Sobowale, Kristian Barlinn, Hanne Sallinen, Nitin Goyal, Shin-Joe Yeh, Theodore Karapanayiotides, Teddy Y Wu, Konstantinos Vadikolias, Marc Ferrigno, Georgios Hadjigeorgiou, Rik Houben, Sotirios Giannopoulos, Floris H B M Schreuder, Jason J Chang, Luke A Perry, Maximilian Mehdorn, João-Pedro Marto, João Pinho, Jun Tanaka, Marion Boulanger, Rustam Al-Shahi Salman, Hans R Jäger, Clare Shakeshaft, Yusuke Yakushiji, Philip M C Choi, Julie Staals, Charlotte Cordonnier, Jiann-Shing Jeng, Roland Veltkamp, Dar Dowlatshahi, Stefan T Engelter, Adrian R Parry-Jones, Atte Meretoja, Panayiotis Mitsias, Andrei V Alexandrov, Gareth Ambler, David J Werring
OBJECTIVE: Whether intracerebral haemorrhage (ICH) associated with non-vitamin K antagonist oral anticoagulants (NOAC-ICH) has a better outcome compared to ICH associated with vitamin-K antagonists (VKA-ICH) is uncertain. METHODS: We performed a systematic review and individual patient data meta-analysis of cohort studies comparing clinical and radiological outcomes between NOAC-ICH and VKA-ICH patients. The primary outcome measure was 30-day all-cause mortality...
September 26, 2018: Annals of Neurology
Julia R Dahlqvist, Freja Fornander, Josefine de Stricker Borch, Sofie T Oestergaard, Nanna S Poulsen, John Vissing
OBJECTIVE: Spinal and bulbar muscular atrophy (SBMA) is a slowly progressive disease with weakness of bulbar and extremity muscles. There is no curative treatment for the disease, but several clinical trials have been conducted over the past years. The results from these trials have uncovered a great need to develop quantitative, reliable outcome measures. In this study, we prospectively investigated disease progression over 18 months in 29 patients with genetically confirmed SBMA, using quantitative outcome measures, including Dixon MRI...
September 26, 2018: Annals of Neurology
Ryoko Ihara, Benjamin D Vincent, Michael R Baxter, Erin E Franklin, Jason J Hassenstab, Chengjie Xiong, John C Morris, Nigel J Cairns
OBJECTIVE: To characterize the pattern of neuron loss in hippocampal sclerosis of aging (HS-Aging) and age-related diseases and to evaluate its contribution to cognitive impairment in the elderly. METHODS: Participants (n = 1,361) came from longitudinal observational studies of aging at the Knight Alzheimer Disease Research Center, Washington University, Saint Louis, Missouri, USA. Relative neuron loss in the hippocampus of HS-Aging was measured using unbiased stereological methods...
September 24, 2018: Annals of Neurology
E Balcom, M Doan, W G Branton, J Jovel, G Blevins, B Edguer, T C Hobman, E Yacyshyn, D Emery, A Box, F K H van Landeghem, C Power
Etiologic diagnosis is uncertain in 35-50% of patients with encephalitis despite its substantial global prevalence and disease burden. We report two adult female patients with fatal leukoencephalitis associated with human pegivirus-1 (HPgV-1) brain infection. Neuroimaging showed inflammatory changes in cerebral white matter. Brain-derived HPgV-1 RNA sequences clustered phylogenetically with other pegiviruses despite an 87-nucleotide deletion in the viral NS2 gene. Neuropathology disclosed lymphocyte infiltration and gliosis predominantly in brain white matter...
September 24, 2018: Annals of Neurology
Jingwen Xu, Duoling Li, Jingwei Lv, Xuebi Xu, Bing Wen, Pengfei Lin, Fuchen Liu, Kunqian Ji, Jingli Shan, Honghao Li, Wei Li, Yuying Zhao, Dandan Zhao, Joo Y Pok, Chuanzhu Yan
No abstract text is available yet for this article.
September 19, 2018: Annals of Neurology
Domenico A Restivo, Antonino Casabona, Lucia Frittitta, Antonino Belfiore, Rosario Le Moli, Damiano Gullo, Riccardo Vigneri
OBJECTIVE: Muscle cramps occur in >50% of diabetic patients and reduce the quality of life. No effective treatment is available. We evaluated the clinical effectiveness of botulinum toxin A (BTX-A) injections for treating cramps in diabetic patients with neuropathy. METHODS: This single-center, double-blind, placebo-controlled perspective study investigated the efficacy and safety of BTX-A intramuscular injection for treating calf or foot cramps refractory to common pharmacological drugs...
September 17, 2018: Annals of Neurology
Susan Searles Nielsen, Anat Gross, Alejandra Camacho-Soto, Allison W Willis, Brad A Racette
OBJECTIVE: A recent study observed a two-fold greater risk of Parkinson disease (PD) in relation to the β2-adrenoreceptor antagonist propranolol and a markedly lower risk of PD for the β2-adrenoreceptor agonist salbutamol. We examined whether confounding by clinical indication for these medications, i.e. tremor and smoking-related pulmonary conditions, explained these associations. METHODS: In a large, population-based case-control study of United States Medicare beneficiaries in 2009 with diagnosis codes, procedure codes, and prescription data (48,295 incident PD cases, 52,324 controls), we examined the risk of PD in relation to use of selected β antagonists (propranolol, carvedilol, metoprolol), the β2 agonist salbutamol, and other medications used for the same clinical indications (primidone, inhaled corticosteroids)...
September 17, 2018: Annals of Neurology
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