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Annals of Neurology

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https://www.readbyqxmd.com/read/28093795/the-natural-history-of-pure-autonomic-failure-a-u-s-prospective-cohort
#1
Horacio Kaufmann, Lucy Norcliffe-Kaufmann, Jose-Alberto Palma, Italo Biaggioni, Phillip A Low, Wolfgang Singer, David S Goldstein, Amanda C Peltier, Cyndia A Shibao, Christopher H Gibbons, Roy Freeman, David Robertson
OBJECTIVE: To define the clinical features and biomarkers that predict which patients with pure autonomic failure will develop Parkinson disease, dementia with Lewy bodies, or multiple system atrophy. METHODS: One hundred patients who presented with pure autonomic failure were recruited at 5 medical centers in the U.S. Seventy-four patients agreed to be followed prospectively. Patients underwent clinical evaluations including neurological rating scales, sleep questionnaires, smell test, and sympathetic and parasympathetic cardiovascular autonomic function tests...
January 17, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28076894/electrical-impedance-myography-for-assessment-of-duchenne-muscular-dystrophy
#2
Seward B Rutkove, Kush Kapur, Craig Zaidman, Jim S Wu, Amy Pasternak, Lavanya Madabusi, Sung Yim, Adam Pacheck, Heather Szelag, Tim Harrington, Basil T Darras
OBJECTIVE: Sensitive, objective and easily applied methods for evaluating disease progression and response to therapy are needed for clinical trials in Duchenne muscular dystrophy (DMD). In this study, we evaluated whether electrical impedance myography (EIM) could serve this purpose. METHODS: In this non-blinded study, 36 boys with DMD and 29 age-similar healthy boys underwent multifrequency EIM measurements for up to 2 years on 6 muscles unilaterally along with functional assessments...
January 11, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28076893/-pseudo-feeders-on-fetal-mri-predict-outcome-in-vein-of-galen-malformations
#3
Guillaume Saliou, Irène Vraka, Jean-Paul Teglas, Marie-Victoire Senat, Philippe Durand, Claire Colmant, Augustin Ozanne, Jelena Martinovic, Pierre Tissiere, Catherine Adamsbaum
OBJECTIVE: While vein of Galen aneurysmal malformations (VGAM) can be diagnosed in the fetus, the challenge is predicting the occurrence of its two major complications: cardiopulmonary failure and encephalomalacia. This study attempts to determine which fetal brain MRI features might be used to predict the development of these complications at birth. METHODS: The cohort was extracted from a prospectively-assembled database of VGAM cases managed at a single referral centre from 2000 to 2014...
January 11, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28074605/eyetracking-based-assessment-suggests-preserved-wellbeing-in-locked-in-patients
#4
Katharina Linse, Wolfgang Rüger, Markus Joos, Henning Schmitz-Peiffer, Alexander Storch, Andreas Hermann
We assessed quality of life (QoL) and psychological wellbeing in patients with ALS-induced locked-in-state and their next of kin in a fully unbiased manner using eye-tracking computer systems (ETCS). Eleven of 30 screened patients and nine next of kin completed study procedures. Patients reported good QoL which appeared to be at the cost of the QoL of their next of kin. Next of kin rated their own or patients' QoL similarly, but they identified different areas as important as compared with patients. Our results are of importance for the discussion of end-of-life-decisions and the evaluation of the patient's presumed wishes as well as for psychosocial interventions...
January 11, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28074593/microtubule-associated-protein-map-1b-novel-paraneoplastic-biomarker-running-head-map-1b-igg-novel-paraneoplastic-biomarker
#5
Avi Gadoth, Thomas J Kryzer, Jim Fryer, Andrew McKeon, Vanda A Lennon, Sean J Pittock
To report the identification of microtubule associated protein (MAP)1B as the antigen of the previously described PCA-2 antibody, its frequency and clinical, oncological and serological associations. Methods Archival serum or cerebrospinal fluid (CSF) specimens were available from 96 of 118 consecutive PCA-2-IgG-seropositive patients identified 1993-2016. The autoantigen, defined in mouse brain lysate by western blot and mass spectrometry, was confirmed by dual immunohistochemical staining using commercial antibodies...
January 11, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28074534/depolarizing-gaba-contributes-to-glutamatergic-network-rewiring-in-epilepsy
#6
Nazim Kourdougli, Christophe Pellegrino, Juho-Matti Renko, Stanislav Khirug, Geneviève Chazal, Tiina-Kaisa Kukko-Lukjanov, Sari E Lauri, Jean-Luc Gaiarsa, Liang Zhou, Angélique Peret, Eero Castrén, Raimo Kalevi Tuominen, Valérie Crépel, Claudio Rivera
OBJECTIVE: Rewiring of excitatory glutamatergic neuronal circuits is a major abnormality in epilepsy. Besides the rewiring of excitatory circuit, an abnormal depolarizing GABAergic drive has been hypothesized to participate in the epileptogenic processes. However, a remaining clinically relevant question is whether early post Status Epilepticus (SE) evoked chloride dysregulation is important for the remodeling of aberrant glutamatergic neuronal circuit. METHODS: Osmotic mini-pumps were used to infuse intracerebrally a specific inhibitor of depolarizing GABAergic transmission as well as a functionally blocking antibody towards the pan-neurotrophin receptor p75 (p75(NTR) )...
January 11, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28074496/passages-2017
#7
EDITORIAL
Clifford B Saper
No abstract text is available yet for this article.
January 11, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28035698/is-this-significant
#8
EDITORIAL
Rebecca A Betensky
No abstract text is available yet for this article.
December 30, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/28032718/de-novo-kcna2-mutations-cause-hereditary-spastic-paraplegia
#9
LETTER
Andreea Manole, Roope Männikkö, Michael G Hanna, Dimitri M Kullmann, Henry Houlden
No abstract text is available yet for this article.
December 29, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/28032667/caffeine-alleviates-progressive-motor-deficits-in-a-transgenic-mouse-model-of-spinocerebellar-ataxia
#10
Nélio Gonçalves, Ana T Simões, Rui S Prediger, Hirokazu Hirai, Rodrigo A Cunha, Luís Pereira de Almeida
OBJECTIVE: Machado-Joseph disease (MJD) is a neurodegenerative spinocerebellar ataxia (SCA) associated with an expanded polyglutamine tract within ataxin-3 for which there is currently no available therapy. We previously showed that caffeine, a non-selective adenosine receptor antagonist, delays the appearance of striatal damage resulting from expression of full-length mutant ataxin-3. Here we investigated the ability of caffeine to alleviate behavioral deficits and cerebellar neuropathology in transgenic mice with a severe ataxia resulting from expression of a truncated fragment of polyglutamine-expanded ataxin-3 in Purkinje cells...
December 29, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/28032651/-11-c-pbr28-increase-in-multiple-sclerosis-reflects-neuroinflammation
#11
LETTER
Elena Herranz, Jacob M Hooker, David Izquierdo-Garcia, Marco L Loggia, Caterina Mainero
No abstract text is available yet for this article.
December 29, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/28026046/anti-lgi1-encephalitis-is-strongly-associated-with-hla-dr7-and-hla-drb4
#12
Agnes van Sonderen, Dave L Roelen, Johannes A Stoop, Robert M Verdijk, Geert W Haasnoot, Roland D Thijs, Paul W Wirtz, Marco W J Schreurs, Frans H J Claas, Peter A E Sillevis Smitt, Maarten J Titulaer
Leucine-rich glioma-inactivated1 (LGI1)-encephalitis is an antibody-associated inflammation of the limbic area. An autoimmune etiology is suspected but not proven yet. We performed HLA-analysis in 25 non-tumor anti-LGI1 patients and discovered a remarkably strong HLA-association. HLA-DR7 was present in 88% compared to 19.6% in healthy controls (p=4.1*10-11). HLA-DRB4 was present in all patients and in 46.5% controls (p=1.19*10-7). These findings support the autoimmune hypothesis. An exploratory analysis was performed in a small group of four tumor-LGI1 patients...
December 27, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/28026041/emerging-therapies-and-challenges-in-spinal-muscular-atrophy
#13
REVIEW
Michelle A Farrar, Susanna B Park, Steve Vucic, Kate A Carey, Bradley J Turner, Thomas H Gillingwater, Kathryn J Swoboda, Matthew C Kiernan
Spinal muscular atrophy (SMA) is a hereditary neurodegenerative disease with severity ranging from progressive infantile paralysis and premature death (Type I) to limited motor neuron loss and normal life expectancy (Type IV). Without disease-modifying therapies, the impact is profound for patients and their families. Improved understanding of the molecular basis of SMA, disease pathogenesis, natural history and recognition of the impact of standardized care on outcomes has yielded progress towards the development of novel therapeutic strategies and are summarised...
December 27, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/28026032/the-major-histocompatibility-complex-and-antibody-mediated-limbic-encephalitis
#14
Olaf Stuve, Steven Vernino
No abstract text is available yet for this article.
December 27, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/28026029/anti-lgi1-encephalitis-is-associated-with-unique-hla-subtypes
#15
Tae-Joon Kim, Soon-Tae Lee, Jangsup Moon, Jun-Sang Sunwoo, Jung-Ick Byun, Jung-Ah Lim, Yong-Won Shin, Jin Sun Jun, Han Sang Lee, Woo-Jin Lee, Ah Reaum Yang, Yunhee Choi, Kyung-Il Park, Keun-Hwa Jung, Ki-Young Jung, Manho Kim, Sang Kun Lee, Kon Chu
OBJECTIVE: Autoimmune encephalitis, represented by anti-leucine-rich glioma-inactivated 1 (anti-LGI1) and anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis, has increasing clinical significance based on recent discoveries of neuronal autoantibodies. However, its immunopathogenesis is not fully understood. Here, we investigated whether autoimmune encephalitis is associated with the human leukocyte antigen (HLA) subtypes. METHODS: We compared the HLA genotypes of 11 anti-LGI1 and 17 anti-NMDAR encephalitis patients to the control groups, which consisted of 210 epilepsy patients and 485 healthy Koreans...
December 27, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/28019717/reply-to-gan-or-and-colleagues-and-manole-and-colleagues
#16
LETTER
Katherine L Helbig, Ulrike B S Hedrich, Ingrid E Scheffer, Ingo Helbig, Holger Lerche, Johannes R Lemke
No abstract text is available yet for this article.
December 26, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/28019673/developing-a-successful-global-neurology-program
#17
Omar K Siddiqi, Merritt Brown, Christine Cooper, Masharip Atadzhanov, Shabir Lakhi, Igor J Koralnik
No abstract text is available yet for this article.
December 26, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/28019672/serotonin-transporter-in-parkinson-s-disease-a-meta-analysis-of-pet-studies
#18
REVIEW
Gennaro Pagano, Flavia Niccolini, Paolo Fusar-Poli, Marios Politis
Positron emission tomography (PET) is a powerful analytical tool for the in vivo molecular imaging of the human brain. Over the past years, a number of PET studies imaging the serotonin transporter (SERT) have been employed, and provided evidence for the key role of serotonergic pathology in patients with Parkinson's disease (PD). Here, we review the role of SERT in the development of motor and non-motor complications in patients with PD, and we performed a meta-analysis to identify the patterns of SERT pathology and the relevance to symptoms...
December 26, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/28019662/simvastatin-is-associated-with-decreased-risk-of-parkinson-disease
#19
LETTER
Brage Brakedal, Kristoffer Haugarvoll, Charalampos Tzoulis
No abstract text is available yet for this article.
December 26, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/28019661/kcna2-mutations-are-rare-in-hereditary-spastic-paraplegia
#20
LETTER
Ziv Gan-Or, Grace Yoon, Oksana Suchowersky, Nicolas Dupré, Guy A Rouleau
No abstract text is available yet for this article.
December 26, 2016: Annals of Neurology
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