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Annals of Neurology

Yaping Liu, Jihui Zhang, Siu Ping Lam, Junying Zhou, Mandy Wai Man Yu, Shirley Xin Li, Joey Wing Yan Chan, Ronald B Postuma, Vincent Chung Tong Mok, Yun Kwok Wing
BACKGROUND: To determine the familial aggregation of idiopathic rapid eye movement sleep behavior disorder (iRBD), neurodegenerative diseases, and related biomarkers. METHODS: A total of 404 and 387 first-degree relatives of 102 patients with iRBD and 89 controls were recruited, respectively. Among them, 204 and 208 relatives of patients and controls underwent face-to-face clinical assessment, while 97 and 75 relatives underwent further video-polysomnographic assessment, respectively...
February 13, 2019: Annals of Neurology
Rachit Bakshi, Eric A Macklin, Robert Logan, Musab M Zorlu, Ning Xia, Grace F Crotty, Ellen Zhang, Xiqun Chen, Alberto Ascherio, Michael A Schwarzschild
OBJECTIVE: LRRK2 mutations, the most common genetic cause of Parkinson's disease (PD) display incomplete penetrance, indicating the importance of other genetic and environmental influences on disease pathogenesis in LRRK2 mutation carriers. The present study investigates whether urate, an antioxidant, Nrf2 activator, and inverse risk factor for idiopathic PD, is one such candidate biomarker of PD risk modulation in pathogenic LRRK2 mutation carriers. METHODS: Banked plasma samples or urate levels were obtained for three cohorts of age- and sex-matched subjects with and without a known LRRK2 mutation in PD and unaffected controls to conduct a pilot study of 192 subjects from the LRRK2 Cohort Consortium (LCC) and two validation studies of 380 additional subjects from the LCC and of 922 subjects from the Parkinson Progression Marker Initiative...
February 13, 2019: Annals of Neurology
Gloria Dalla Costa, Vittorio Martinelli, Lucia Moiola, Francesca Sangalli, Bruno Colombo, Annamaria Finardi, Paola Cinque, Eva-Maria Kolb, Aiden Haghikia, Ralf Gold, Roberto Furlan, Giancarlo Comi
This study analyzed serum neurofilament light chains (NfL) in 2 European cohorts of 312 MS patients to investigate whether NfL are biomarkers of PML during natalizumab treatment. The cohort comprised 25 PML, 136 natalizumab-treated, and 151 untreated MS patients. Patients subsequently developing PML had similar NfL to other natalizumab-treated MS patients. At PML onset, NfL were 10-fold higher than in the pre-PML condition and in natalizumab-treated or untreated MS patients, and NfL continued to increase until onset of immune reconstitution inflammatory syndrome...
February 13, 2019: Annals of Neurology
Tae Jung Kim, Hee-Kwon Park, Jeong-Min Kim, Ji Sung Lee, Soo-Hyun Park, Hae-Bong Jeong, Kwang-Yeol Park, Joung-Ho Rha, Byung-Woo Yoon, Sang-Bae Ko
OBJECTIVE: Although BP variability has been regarded as a risk factor for hemorrhagic transformation (HTF) after intravenous thrombolysis, its effect on HTF after endovascular recanalization therapy (ERT) remains to be elucidated. We aimed to study the relationship between BP variability and symptomatic intracerebral hemorrhage (sICH) after successful recanalization with ERT. METHODS: A total of 211 patients with acute ischemic stroke and successful recanalization (Thrombolysis in Cerebral Infarction 2b or 3) after ERT were included between January 2013 and May 2017...
February 13, 2019: Annals of Neurology
Chi-Chao Chao, Hsueh-Wen Hsueh, Hung-Wei Kan, Chun-Hua Liao, Hao-Hua Jiang, Hao Chiang, Whei-Min Lin, Ti-Yen Yeh, Yea-Huey Lin, Ya-Yin Cheng, Sung-Tsang Hsieh
OBJECTIVE: Small-fiber sensory and autonomic symptoms are early presentations of familial amyloid polyneuropathy (FAP) with transthyretin (TTR) mutations. This study aimed to explore the potential of skin nerve pathologies as early and disease-progression biomarkers and their relationship with skin amyloid deposits. METHODS: Skin biopsies were performed in patients and carriers to measure intraepidermal nerve fiber (IENF) density, sweat gland innervation index of structural protein gene product 9...
February 8, 2019: Annals of Neurology
Sara Bandres-Ciga, Alastair J Noyce, Gibran Hemani, Aude Nicolas, Andrea Calvo, Gabriele Mora, Pentti J Tienari, David J Stone, Mike A Nalls, Andrew B Singleton, Adriano Chiò, Bryan J Traynor
OBJECTIVE: To identify shared polygenic risk and causal associations in amyotrophic lateral sclerosis (ALS). METHODS: Linkage disequilibrium score regression and Mendelian randomization were applied in a large-scale, data-driven manner to explore genetic correlations and causal relationships between > 700 phenotypic traits and ALS. Exposures consisted of publicly available genome-wide association studies (GWASes) summary statistics from MR Base and LD-hub. The outcome data came from the recently published ALS GWAS involving 20,806 cases and 59,804 controls...
February 5, 2019: Annals of Neurology
Anette Varbo, Børge G Nordestgaard
OBJECTIVE: High remnant cholesterol concentrations are associated with high risk of ischemic heart disease, but whether this is also the case for ischemic stroke is unknown. We tested the hypothesis that high remnant cholesterol concentrations are associated with increased risk of ischemic stroke in the general population. METHODS: 102,964 individuals from the Copenhagen General Population Study with information on remnant cholesterol at baseline in 2003-15 were included in a prospective observational association study...
February 5, 2019: Annals of Neurology
Nicolaas I Bohnen, Prabesh Kanel, Zhi Zhou, Robert A Koeppe, Kirk A Frey, William T Dauer, Roger L Albin, Martijn L T M Müller
OBJECTIVE: Postural instability and gait difficulties (PIGD) represent debilitating disturbances in Parkinson's disease (PD). Prior acetylcholinesterase PET imaging studies implicate cholinergic changes as significant contributors to PIGD features. These studies were limited in quantification of striatal cholinergic synapse integrity. Vesicular acetylcholine transporter (VAChT) PET ligands are better suited for evaluation of high binding areas. We examined associations between regional VAChT expression and freezing of gait (FoG) and falls...
February 5, 2019: Annals of Neurology
Lan Hong, Xin Cheng, Longting Lin, Andrew Bivard, Yifeng Ling, Kenneth Butcher, Qiang Dong, Mark Parsons
OBJECTIVE: To explore the association of post-stroke baseline blood pressure with cerebral collateral flow and functional outcome in acute ischemic patients with large vessel occlusion/stenosis. METHODS: Patients identified with large vessel occlusion/stenosis with baseline multimodal computed tomography, follow-up imaging, and complete clinical profiles were included. A 90-day modified Rankin Scale of 0-1 was defined as an excellent functional outcome. Cerebral collateral flow was quantified by the volume ratio of tissue within the delay time>3 seconds perfusion lesion with severely delayed contrast transit (delay time>3s/delay time>6s)...
February 5, 2019: Annals of Neurology
G Fadda, R A Brown, R Magliozzi, B Aubert-Broche, J O'Mahony, R T Shinohara, B Banwell, R A Marrie, E A Yeh, L D Collins, D L Arnold, A Bar-Or
OBJECTIVE: Central nervous system (CNS) pathology in multiple sclerosis includes both focal inflammatory perivascular injury and injury to superficial structures, including the subpial region of the cortex, which reportedly exhibits a gradient of damage from the surface inwards. We assessed how early in the multiple sclerosis course a 'surface-in' process of injury suggesting progressive biology may begin. METHODS: We focused on the thalamus which notably has both a cerebrospinal fluid (CSF) interface and a white matter interface...
February 4, 2019: Annals of Neurology
Tomoyuki Kawada
No abstract text is available yet for this article.
January 31, 2019: Annals of Neurology
Feifei Tao, Gary W Beecham, Adriana P Rebelo, Susan H Blanton, John J Moran, Camila Lopez-Anido, John Svaren, Jasper M Morrow, Lisa Abreu, Devon Rizzo, Callyn A Kirk, Xingyao Wu, Shawna Feely, Camiel Verhamme, Mario A Saporta, David N Herrmann, John W Day, Charlotte J Sumner, Thomas E Lloyd, Jun Li, Sabrina W Yum, Franco Taroni, Frank Baas, Byung-Ok Choi, Davide Pareyson, Steven S Scherer, Mary M Reilly, Michael E Shy, Stephan Züchner
OBJECTIVE: Genetic modifiers in rare disease have long been suspected to contribute to the considerable variance in disease expression, including Charcot-Marie-Tooth disease type 1A (CMT1A). To address this question the Inherited Neuropathy Consortium collected a large standardized sample of such rare CMT1A patients over a period of eight years. CMT1A is caused in most patients by a uniformly sized 1.5Mb duplication event involving the gene PMP22. METHODS: We genotyped DNA samples from 971 CMT1A patients on Illumina beadchips...
January 31, 2019: Annals of Neurology
Yo-El S Ju, David M Holtzman
No abstract text is available yet for this article.
January 31, 2019: Annals of Neurology
Michael J Thorpy, Colin Shapiro, Geert Mayer, Bruce C Corser, Helene Emsellem, Giuseppe Plazzi, Dan Chen, Lawrence P Carter, Hao Wang, Yuan Lu, Jed Black, Yves Dauvilliers
OBJECTIVE: Solriamfetol (JZP-110) is a selective dopamine and norepinephrine reuptake inhibitor with wake-promoting effects. This phase 3 study (NCT02348593) evaluated the safety and efficacy of solriamfetol in narcolepsy. METHODS: Patients with narcolepsy with mean sleep latency <25 minutes on the Maintenance of Wakefulness Test (MWT), Epworth Sleepiness Scale (ESS) score ≥10, and usual nightly sleep ≥6 hours were randomized to solriamfetol 75, 150, or 300 mg, or placebo for 12 weeks...
January 29, 2019: Annals of Neurology
Roger G Whittaker, Paola Porcari, Luis Braz, Timothy L Williams, Ian S Schofield, Andrew M Blamire
A novel diffusion-weighted MRI protocol sensitive to contraction of individual skeletal motor units was developed. We applied this technique to the lower limb muscles of 4 patients with confirmed ALS and six healthy controls. A 3-minute scan revealed florid fasciculation in ALS patients, involving both superficial and deep muscles, and at a frequency higher than in healthy controls. This novel imaging technique reveals hitherto unobtainable information on human motor unit structure and function, which may allow earlier diagnosis and recruitment to clinical trials...
January 28, 2019: Annals of Neurology
Jung-Ah Lim, Soon-Tae Lee, Jangsup Moon, Jin-Sun Jun, Tae-Joon Kim, Yong-Won Shin, Suhailah Abdullah, Jung-Ick Byun, Jun-Sang Sunwoo, Keun Tae Kim, Tae-Won Yang, Woo-Jin Lee, Hye-Jin Moon, Dong Wook Kim, Byung Chan Lim, Yong Won Cho, Tae-Ho Yang, Hee Jin Kim, Young-Soo Kim, Yong Seo Koo, Byeongsu Park, Keun-Hwa Jung, Manho Kim, Kyung-Il Park, Ki-Young Jung, Kon Chu, Sang Kun Lee
OBJECTIVE: There is no scale for rating the severity of autoimmune encephalitis (AE). In this study, we aimed to develop a novel scale for rating severity in patients with diverse AE syndromes and to verify the reliability and validity of the developed scale. METHODS: The key items were generated by a panel of experts and selected according to content validity ratios. The developed scale was initially applied to 50 patients with AE (development cohort) to evaluate its acceptability, reproducibility, internal consistency, and construct validity...
January 24, 2019: Annals of Neurology
Daniel E Vosberg, Vincent Beaulé, Angélica Torres-Berrío, Danielle Cooke, Amanda Chalupa, Natalia Jaworska, Sylvia Ml Cox, Kevin Larcher, Yu Zhang, Dominique Allard, France Durand, Alain Dagher, Chawki Benkelfat, Myriam Srour, Donatella Tampieri, Roberta La Piana, Ridha Joober, Franco Lepore, Guy Rouleau, Alvaro Pascual-Leone, Michael Fox, Cecilia Flores, Marco Leyton, Hugo Théoret
OBJECTIVE: Recently identified mutations of the axon guidance molecule receptor gene, DCC, present an opportunity to investigate, in living human brain, mechanisms affecting neural connectivity and the basis of mirror movements, involuntary contralateral responses that mirror voluntary unilateral actions. We hypothesized that haploinsufficient DCC+/- mutation carriers with mirror movements would exhibit decreased DCC mRNA expression, a functional ipsilateral corticospinal tract, greater "mirroring" motor representations, and reduced interhemispheric inhibition...
January 21, 2019: Annals of Neurology
Alessandro Pincherle, Jane Jöhr, Camille Chatelle, Jean-Michel Pignat, Renaud Du Pasquier, Philippe Ryvlin, Mauro Oddo, Karin Diserens
Disorders of consciousness (DOC) are a common consequence of severe brain injuries, and clinical evaluation is critical to provide a correct diagnosis and prognosis. The revised Motor Behavior Tool (MBT-r) is a clinical complementary tool aiming to identify subtle motor behaviors that might reflect residual cognition in DOC. In this prospective study including 30 DOC patients in the early stage after brain injury, we show that the revised MBT-r has an excellent inter-rater agreement and has the ability to identify a subgroup of patients, underestimated by the Coma Recovery Scale-Revised, showing residual cognition and a subsequent recovery of consciousness...
January 20, 2019: Annals of Neurology
Christoph Kellinghaus, Andrea O Rossetti, Eugen Trinka, Nicolas Lang, Theodor W May, Iris Unterberger, Stephan Rüegg, Raoul Sutter, Adam Strzelczyk, Christian Tilz, Zeljko Uzelac, Felix Rosenow
OBJECTIVE: To investigate the initial termination rate of status epilepticus (SE) in a large observational study, and to explore associated variables. METHODS: Data of adults treated for SE were collected prospectively in centers in Germany, Austria, and Switzerland, during 4.5 years. Incident episodes of 1,049 patients were analyzed using uni- and multivariate statistics to determine factors predicting cessation of SE within 1 hour (for generalized convulsive SE, GCSE) and 12 hours (for non-GCSE) of initiating treatment...
January 20, 2019: Annals of Neurology
L Baert, M Benkhoucha, N Popa, M C Ahmed, B Manfroi, J Boutonnat, N Sturm, G Raguenez, M Tessier, O Casez, R Marignier, M Ahmadi, A Broisat, C Ghezzi, C Rivat, C Sonrier, M Hahne, D Baeten, R R Vives, H Lortat-Jacob, P N Marche, P Schneider, H P Lassmann, J Boucraut, P Lalive, B Huard
OBJECTIVE: the two related TNF members APRIL and BAFF are currently targeted in autoimmune diseases as B-cell regulators. In multiple sclerosis (MS), combined APRIL/BAFF blockade led to an unexpected exacerbated inflammation in the central nervous system (CNS) of patients. Here, we investigate the role of the APRIL/BAFF axis in the CNS. METHODS: APRIL expression was analyzed in MS lesions by immunohistochemistry. The in vivo role of APRIL was assessed in the murine MS model, experimental autoimmune encephalitis (EAE)...
January 11, 2019: Annals of Neurology
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