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Annals of Neurology

Rodrigo H Mendonça, Antônio J Rocha, Andres Lozano-Arango, Astry B Diaz, Claudia Castiglioni, André M S Silva, Umbertina C Reed, Leslie Kulikowski, Ida Paramonov, Ivon Cuscó, Eduardo F Tizzano, Edmar Zanoteli
Spinal muscular atrophy (SMA) type 0 is the most severe form of SMA associated with the SMN1 gene and manifesting at birth. Most patients die in the first weeks of life. In this work, we present three patients with SMA type 0 who survived longer than 1 year and presented diffuse and progressive brain abnormalities on MRI, which are not usually seen in patients with SMA. Thus, severe brain involvement may likely be the full end manifestation of an already extreme SMA phenotype caused by substantial reduction of the SMN protein in the brain...
July 13, 2019: Annals of Neurology
Neringa Jurkute, Costin Leu, Hans-Martin Pogoda, Gavin Arno, Anthony G Robson, Gudrun Nürnberg, Janine Altmüller, Holger Thiele, Susanne Motameny, Mohammad Reza Toliat, Kate Powell, Wolfgang Höhne, Michel Michaelides, Andrew R Webster, Anthony T Moore, Matthias Hammerschmidt, Peter Nürnberg, Patrick Yu-Wai-Man, Marcela Votruba
OBJECTIVE: Autosomal dominant optic atrophy (ADOA) starts in early childhood with loss of visual acuity and color vision deficits. OPA1 mutations are responsible for the majority of cases, but in a proportion of patients with a clinical diagnosis of ADOA, the cause remains unknown. This study aimed to identify novel ADOA-associated genes and explore their causality. METHODS: Linkage analysis and sequencing were performed in multi-generation families and unrelated patients to identify disease-causing variants...
July 12, 2019: Annals of Neurology
Benjamin Hotter, Ivana Galinovic, Claudia Kunze, Peter Brunecker, Gerhard J Jungehulsing, Arno Villringer, Matthias Endres, Kersten Villringer, Jochen B Fiebach
Transient ischemic attack (TIA) is defined as focal neurological deficit caused by ischemia resolving within 24 hrs. In a secondary analysis of a large monocentric cohort of 446 TIA patients, we explored the frequency and determinants of DWI lesions on high-resolution MRI. Overall, 240 (54%) of all TIA patients presented with DWI lesions. These patients had higher NIHSS and ABCD2 scores and presented more frequently with vessel occlusion and perfusion deficits, but had similar functional outcome at 3 months...
July 12, 2019: Annals of Neurology
Varina L Boerwinkle, Emilio G Cediel, Lucia Mirea, Korwyn Williams, John F Kerrigan, Sandi Lam, Jeffrey S Raskin, Virendra R Desai, Angus A Wilfong, P David Adelson, Daniel J Curry
OBJECTIVE: Postoperative resting state functional MRI in children with intractable epilepsy has not been quantified in relation to seizure outcome. Therefore, its value as a biomarker for epileptogenic pathology is not well understood. METHODS: In a sample of children with intractable epilepsy who underwent prospective resting state guided epilepsy surgery, post-operative resting state functional MRI was performed 6 to 12 months later. Graded normalization of the post-operative resting state seizure onset zone was compared to seizure outcomes, patient, surgery, and anatomical MRI characteristics...
July 11, 2019: Annals of Neurology
Silvia Del Din, Morad Elshehabi, Brook Galna, Markus Hobert, Elke Warmerdam, Ulrike Suenkel, Kathrin Brockmann, Florian Metzger, Clint Hansen, Daniela Berg, Lynn Rochester, Walter Maetzler
OBJECTIVE: Quantification of gait with wearable technology is promising; recent cross-sectional studies showed that gait characteristics are potential prodromal markers for Parkinson's disease (PD). The aim of this longitudinal prospective observational study was to establish gait impairments and trajectories in the prodromal phase of PD, identifying which gait characteristics are potentially early diagnostic markers of PD. METHODS: 696 healthy controls (HC, 63±7 years) recruited in the TREND study were included...
July 11, 2019: Annals of Neurology
Adrian R Parry-Jones, Camilla Sammut-Powell, Kyriaki Paroutoglou, Emily Birleson, Joshua Rowland, Stephanie Lee, Luca Cecchini, Mark Massyn, Richard Emsley, Benjamin Bray, Hiren Patel
OBJECTIVE: Anticoagulation reversal, intensive blood pressure lowering, neurosurgery and access to critical care might all be beneficial in acute intracerebral hemorrhage (ICH). We combined and implemented these as the 'ABC' hyperacute care bundle and sought to determine whether the implementation was associated with lower case fatality. METHODS: The ABC bundle was implemented from 1 June 2015 to 31 May 2016. Key process targets were set and a registry captured consecutive patients...
July 10, 2019: Annals of Neurology
Matthew B Bevers, Zoe Wolcott, Søren Bache, Christina Hansen, Cristina Sastre, Ravi Mylvaganam, Matthew J Koch, Aman B Patel, Kirsten Møller, W Taylor Kimberly
OBJECTIVE: To investigate whether soluble ST2, a prognostic marker in cardiovascular and inflammatory disorders, is associated with neurological injury after aneurysmal subarachnoid hemorrhage (SAH). METHODS: We studied SAH patients from two independent cohorts. Outcome assessments included functional status at 90 days using the modified Rankin Scale (mRS), mortality, and delayed cerebral ischemia (DCI). The relationships between sST2 plasma level and outcome measures were assessed in both cross sectional and longitudinal analysis...
July 10, 2019: Annals of Neurology
Aristeidis H Katsanos, Konark Malhotra, Nitin Goyal, Adam Arthur, Peter D Schellinger, Martin Köhrmann, Christos Krogias, Guillaume Turc, Georgios Magoufis, Didier Leys, Niaz Ahmed, Pooja Khatri, Mayank Goyal, Andrei V Alexandrov, Georgios Tsivgoulis
OBJECTIVE: The substantial clinical improvement in acute ischemic stroke (AIS) patients treated with mechanical thrombectomy (MT), combined with the poor response of proximal intracranial occlusions to intravenous thrombolysis (IVT), led to questions regarding the utility of bridging therapy (BT;IVT followed by MT), compared to direct mechanical thrombectomy (dMT) for AIS patients with large vessel occlusions (LVO). METHODS: We aimed to investigate the comparative safety and efficacy of BT and dMT in AIS patients...
July 7, 2019: Annals of Neurology
Whitney Wharton, Alexander L Kollhoff, Umesh Gangishetti, Daneille D Verble, Samsara Upadhya, Henrik Zetterberg, Veena Kumar, Kelly D Watts, Andrea J Kippels, Marla Gearing, J Christina Howell, Monica W Parker, William T Hu
OBJECTIVE: Compared to older Caucasians, older African Americans have higher risks of developing Alzheimer's disease (AD), and lower cerebrospinal fluid (CSF) tau biomarker levels. It is not known whether tau-related differences begin earlier in life, and whether race modifies other AD-related biomarkers such as inflammatory proteins. METHODS: We performed multiplex cytokine analysis in a healthy middle-aged cohort with family history of AD (n=68) and an older cohort (n=125) with normal cognition (NC), mild cognitive impairment (MCI), or AD dementia...
July 4, 2019: Annals of Neurology
Matthew P Pase, Jayandra J Himali, Hugo J Aparicio, Jose Rafael Romero, Claudia L Satizabal, Pauline Maillard, Charles DeCarli, Alexa S Beiser, Sudha Seshadri
Higher plasma total-tau level is associated with incident dementia but its relationship with stroke risk is unknown. In this prospective community-based study, we evaluated plasma total-tau level as a biomarker of stroke risk in 2794 Framingham Heart Study participants. Persons with plasma total-tau levels in the top quintile, versus the bottom four, had an increased risk of incident stroke over a mean follow-up of 8.3 years (Hazard Ratio, 2.01; 95% Confidence Interval, 1.32-3.08) following adjustments for age, sex, and stroke risk factors...
July 4, 2019: Annals of Neurology
Sung-Min Cho, Maximilian Mulder, Romergryko G Geocadin
No abstract text is available yet for this article.
June 28, 2019: Annals of Neurology
Sara Gil-Perotin, Carmen Alcalá, Francisco Carlos Pérez-Miralles, Bonaventura Casanova
No abstract text is available yet for this article.
June 28, 2019: Annals of Neurology
Bruce A C Cree, Stephen L Hauser
No abstract text is available yet for this article.
June 28, 2019: Annals of Neurology
J Hofmeijer, B J Ruijter, Mjam van Putten
No abstract text is available yet for this article.
June 28, 2019: Annals of Neurology
Susanna C Larsson, Stephen Burgess, Karl Michaëlsson
We used the Mendelian randomization design to explore the potential causal association of smoking with ischemic stroke and intracerebral hemorrhage using summary statistics data for 34,217 ischemic stroke cases and 404,630 noncases and 1545 cases of intracerebral hemorrhage and 1481 noncases. Genetic predisposition to smoking initiation (ever smoking regularly), based on up to 372 single-nucleotide polymorphisms, was statistically significantly positively associated with any ischemic stroke, large artery stroke, and small vessel stroke but not cardioembolic stroke or intracerebral hemorrhage...
June 25, 2019: Annals of Neurology
Jie Xu, Anxin Wang, Runqi Wangqin, Jinglin Mo, Zimo Chen, Liye Dai, Xia Meng, Xingquan Zhao, Yilong Wang, Hao Li, Wei Chen, Ying Xian, Yongjun Wang
OBJECTIVE: The dual antiplatelet therapy (DAT) with clopidogrel plus aspirin has been suggested by AHA/ASA guidelines for minor stroke (MS) and transient ischemic attack (TIA) patients. The purpose of this study was to find the potential subgroups that benefit from the DAT. We aimed to compare the efficacy of clopidogrel-aspirin therapy with aspirin therapy in MS/TIA patients stratified by CYP2C19 genotype and risk profiles. METHODS: CYP2C19 loss-of-function allele (LoFA) carriers were defined as patients with either LoFA of *2 or *3...
June 25, 2019: Annals of Neurology
Marika Pane, Giorgia Coratti, Valeria A Sansone, Sonia Messina, Claudio Bruno, Michela Catteruccia, Maria Sframeli, Emilio Albamonte, Marina Pedemonte, Adele D'Amico, Chiara Bravetti, Beatrice Berti, Giorgia Brigati, Paola Tacchetti, Francesca Salmin, Roberto de Sanctis, Simona Lucibello, Marco Piastra, Orazio Genovese, Enrico Bertini, Giuseppe Vita, Francesco Danilo Tiziano, Eugenio Mercuri
OBJECTIVE: The aim of the study was to report 12-month changes after treatment with Nusinersen in a cohort of 85 type I Spinal Muscular Atrophy patients of age ranging from 2 months to 15 years and 11 months. METHODS: All patients were assessed using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) and the Hammersmith Infant Neurological Examination-Section 2 (HINE-2). RESULTS: Two of the 85 had 1 SMN2 copy, 61 had 2 copies, 18 had 3 copies...
June 22, 2019: Annals of Neurology
Kassandra L Munger, Kira Hongell, Marianna Cortese, Julia Åivo, Merja Soilu-Hänninen, Heljä-Marja Surcel, Alberto Ascherio
OBJECTIVE: To determine whether maternal Epstein-Barr virus (EBV) IgG antibody levels are associated with risk of multiple sclerosis (MS) in the offspring. METHODS: We conducted a prospective nested case-control study in the Finnish Maternity Cohort (FMC) with serum samples from over 800,000 women collected during pregnancy since 1983. Cases of MS among offspring born between 1983 and 1991 were identified via hospital and prescription registries; 176 cases were matched to up to 3 controls (n=326) on region and dates of birth, sample collection, and mother's birth...
June 21, 2019: Annals of Neurology
David L Brody, Leighton Chan, Giovanni Cizza
No abstract text is available yet for this article.
June 17, 2019: Annals of Neurology
Steven U Walkley, Leonard Abbeduto, Mark L Batshaw, Anita Bhattacharyya, Susan Y Bookheimer, Bradley T Christian, John N Constantino, Jean de Vellis, Daniel A Doherty, David L Nelson, Joseph Piven, Annapurna Poduri, Scott L Pomeroy, Rodney C Samaco, Huda Y Zoghbi, Michael J Guralnick
Progress in addressing the origins of intellectual and developmental disabilities accelerated with the establishment 50 years ago of the Eunice Kennedy Shriver National Institute of Child Health and Human Development of the National Institutes of Health and associated Intellectual and Developmental Disabilities Research Centers. Investigators at these Centers have made seminal contributions to understand human brain and behavioral development, and to define mechanisms and treatments of disorders of the developing brain...
June 17, 2019: Annals of Neurology
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