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Annals of Neurology

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https://www.readbyqxmd.com/read/27900791/robust-graft-survival-and-normalized-dopaminergic-innervation-does-not-obligate-recovery-in-a-pd-patient
#1
Jeffrey H Kordower, Christopher G Goetz, Yaping Chu, Glenda M Halliday, Daniel A Nicholson, Timothy Musial, David J Marmion, A Jon Stoessl, Vesna Sossi, Thomas B Freeman, C Warren Olanow
OBJECTIVE: The main goal of dopamine cell replacement therapy in Parkinson's disease (PD) is to provide clinical benefit mediated by graft survival with nigrostriatal reinnervation. We report a dichotomy between graft structure and clinical function in a patient dying sixteen years following fetal nigral grafting. METHODS: A 55-year-old levodopa-responsive woman with PD received bilateral putamenal fetal mesencephalic grafts as part of an NIH-sponsored double-blind sham-controlled trial...
November 30, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27893164/diagnostic-and-prognostic-value-of-human-prion-detection-in-cerebrospinal-fluid
#2
Aaron Foutz, Brian S Appleby, Clive Hamlin, Xiaoqin Liu, Sheng Yang, Yvonne Cohen, Wei Chen, Janis Blevins, Cameron Fausett, Han Wang, Pierluigi Gambetti, Shulin Zhang, Andrew Hughson, Curtis Tatsuoka, Lawrence B Schonberger, Mark L Cohen, Byron Caughey, Jiri G Safar
Objective-Several prion amplification systems have been proposed for detection of prions in cerebrospinal fluid (CSF), most recently, the measurements of prion seeding activity with second-generation real-time quaking-induced conversion (RT-QuIC). The objective of this study was to investigate the diagnostic performance of the RT-QuIC prion test in the broad phenotypic spectrum of prion diseases. Methods- We performed CSF RT-QuIC testing in 2,141 patients who had rapidly progressive neurological disorders, determined diagnostic sensitivity and specificity in 272 cases which were autopsied, and evaluated the impact of mutations and polymorphisms in the PRNP gene, and Type 1 or Type 2 of human prions on diagnostic performance...
November 28, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27888608/efficacy-and-safety-of-combined-intraventricular-fibrinolysis-with-lumbar-drainage-for-prevention-of-permanent-shunt-dependency-after-intracerebral-hemorrhage-with-severe-ventricular-involvement-a-randomized-trial-and-individual-patient-data-meta-analysis
#3
Dimitre Staykov, Joji B Kuramatsu, Jürgen Bardutzky, Bastian Volbers, Stefan T Gerner, Stephan P Kloska, Arnd Doerfler, Stefan Schwab, Hagen B Huttner
Objective Intraventricular hemorrhage (IVH) is a negative prognostic factor in intracerebral hemorrhage (ICH) and is associated with permanent shunt dependency in a substantial proportion of patients after ICH. IVH treatment by intraventricular fibrinolysis (IVF) was recently linked to reduced mortality rates in the CLEAR III study and IVF represents a safe and effective strategy to hasten clot resolution that may reduce shunt rates. Additionally, promising results from observational studies reported reductions in shunt dependency for a combined treatment approach of IVF plus lumbar drains (LD)...
November 26, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27873350/is-command-following-unrelated-to-top-down-attention-in-consciousness-disorders
#4
LETTER
Luca Bonfiglio, Maria Chiara Carboncini
No abstract text is available yet for this article.
November 22, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27873348/reply-to-is-command-following-unrelated-to-top-down-attention-in-consciousness-disorders
#5
LETTER
Raechelle M Gibson, Srivas Chennu, Davinia Fernández-Espejo, Lorina Naci, Adrian M Owen, Damian Cruse
No abstract text is available yet for this article.
November 22, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27863452/mutation-in-non-coding-rna-rnu12-causes-early-onset-cerebellar-ataxia
#6
Mahmoud Fawzi Elsaid, Nader Chalhoub, Tawfeg Ben-Omran, Pankaj Kumar, Hussein Kamel, Khalid Ibrahim, Yasmin Mohamoud, Eman Al-Dous, Iman Al-Azwani, Joel A Malek, Karsten Suhre, M Elizabeth Ross, Alice Abdel Aleem
OBJECTIVE: Exome sequences account for only 2% of the genome and may overlook mutations causing disease. To obtain a more complete view, whole genome sequencing (WGS) was analyzed in a large consanguineous family in which members displayed autosomal recessively inherited cerebellar ataxia manifesting before two years of age. METHODS: WGS from blood derived gDNA was used for homozygosity mapping and a rare variant search. RNA from isolated blood leukocytes was used for quantitative PCR, RNA sequencing and comparison of the transcriptomes of affected and unaffected family members...
November 18, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27863451/cerebral-white-matter-abnormalities-in-patients-with-charcot-marie-tooth-disease
#7
Mina Lee, Chang-Hyun Park, Hwa-Kyung Chung, Hyeon Jin Kim, Yunseo Choi, Jeong Hyun Yoo, Young Chul Yoon, Young Bin Hong, Ki Wha Chung, Byung-Ok Choi, Hyang Woon Lee
Here, we report the structural evidence of cerebral white matter abnormalities in Charcot-Marie-Tooth (CMT) patients and the relationship between these abnormalities and clinical disability. Brain diffusion tensor imaging (DTI) was performed in CMT patients with demyelinating (CMT1A/CMT1E), axonal (CMT2A/CMT2E), or intermediate (CMTX1/DI-CMT) peripheral neuropathy. Although all patients had normal brain MRI, all genetic subgroups except CMT1A had abnormal DTI findings indicative of significant cerebral white matter abnormalities: decreased fractional anisotropy and axial diffusivity, and increased radial diffusivity...
November 18, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27863444/av-1451-tau-and-%C3%AE-amyloid-pet-imaging-in-dementia-with-lewy-bodies
#8
Kejal Kantarci, Val J Lowe, Bradley F Boeve, Matthew L Senjem, Nikki Tosakulwong, Timothy G Lesnick, Anthony J Spychalla, Jeffrey L Gunter, Julie A Fields, Jonathan Graff-Radford, Tanis J Ferman, David T Jones, Melissa E Murray, David S Knopman, Clifford R Jack, Ronald C Petersen
OBJECTIVE: Patients with probable dementia with Lewy bodies often have Alzheimer's disease-related pathology. Our objective was to determine the pattern of positron emission tomography tau tracer AV-1451 uptake in patients with probable dementia with Lewy bodies, compared to Alzheimer's disease, and its relationship to β-amyloid deposition on positron emission tomography. METHODS: Consecutive patients with clinically probable dementia with Lewy bodies (n=19) from the Mayo Clinic Alzheimer's Disease Research Center underwent MRI, AV-1451 and Pittsburgh compound-B positron emission tomography examinations...
November 18, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27859512/an-open-letter-to-those-who-write-dean-s-letters
#9
EDITORIAL
Clifford B Saper
No abstract text is available yet for this article.
November 17, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27862206/malformations-of-cortical-development
#10
REVIEW
Rahul S Desikan, A James Barkovich
Malformations of cortical development (MCDs) compose a diverse range of disorders that are common causes of neurodevelopmental delay and epilepsy. With improved imaging and genetic methodologies, the underlying molecular and pathobiological characteristics of several MCDs have been recently elucidated. In this review, we discuss genetic and molecular alterations that disrupt normal cortical development, with emphasis on recent discoveries, and provide detailed radiological features of the most common and important MCDs...
November 11, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27862207/successful-management-of-super-refractory-status-epilepticus-with-thalamic-dbs
#11
Kai Lehtimäki, Jaakko W Långsjö, Jyrki Ollikainen, Hanna Heinonen, Timo Möttönen, Timo Tähtinen, Joonas Haapasalo, Jyrki Tenhunen, Jani Katisko, Juha Öhman, Jukka Peltola
Super-refractory status epilepticus is a condition characterized by recurrence of status epilepticus despite use of deep general anesthesia and it has high morbidity and mortality rates. We report a case of a 17-year old man with a prolonged super-refractory status epilepticus which eventually resolved after commencing deep brain stimulation of the centromedian nucleus of the thalamus. Later attempt to reduce stimulation parameters resulted in immediate relapse of status epilepticus, suggesting a pivotal role of deep brain stimulation in the treatment response...
November 9, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27804162/differentiating-lance-adams-syndrome-from-other-forms-of-postanoxic-myoclonus
#12
LETTER
Brin Freund, Peter W Kaplan
No abstract text is available yet for this article.
November 2, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27804148/efficacy-of-phosphodiesterase-4-inhibitors-in-juvenile-batten-disease-cln3
#13
Amy Aldrich, Megan E Bosch, Rachel Fallet, Jessica Odvody, Maria Burkovetskaya, Kakulavarapu V Rama Rao, Jonathan D Cooper, Arlene V Drack, Tammy Kielian
OBJECTIVE: Juvenile Neuronal Ceroid Lipofuscinosis (JNCL), or juvenile Batten disease, is a pediatric lysosomal storage disease caused by autosomal recessive mutations in CLN3, typified by blindness, seizures, progressive cognitive and motor decline, and premature death. Currently, there is no treatment for JNCL that slows disease progression, which highlights the need to explore novel strategies to extend the survival and quality-of-life of afflicted children. Cyclic AMP (cAMP) is a second messenger with pleiotropic effects, including regulating neuroinflammation and neuronal survival...
November 2, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27804144/intestinal-pseudo-obstruction-in-mitochondrial-diseases
#14
LETTER
Guido Primiano, Serenella Servidei
No abstract text is available yet for this article.
November 2, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27798953/reply
#15
LETTER
Kun-Der Lin, Shyi-Jang Shin
No abstract text is available yet for this article.
October 31, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27787903/risk-reduction-of-parkinson-disease-by-statin-therapy-in-patients-with-diabetes
#16
LETTER
Tomoyuki Kawada
No abstract text is available yet for this article.
October 27, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27774643/prothrombin-and-factor-x-are-elevated-in-multiple-sclerosis-patients
#17
Kerstin Göbel, Peter Kraft, Susann Pankratz, Catharina C Gross, Catharina Korsukewitz, Robert Kwiecien, Rolf Mesters, Beate E Kehrel, Heinz Wiendl, Christoph Kleinschnitz, Sven G Meuth
Animal models have implicated an integral role for coagulation factors in neuroinflammatory diseases such as multiple sclerosis (MS) beyond their role in hemostasis. However, their relevance in humans requires further elucidation. This study aimed to determine whether levels of coagulation factors differ between patients with neuroimmunological disorders and respective controls. Individuals suffering from relapsing-remitting and secondary progressive MS had significantly higher prothrombin and factor X levels than healthy donors, whereas levels were unchanged in primary progressive MS and neuromyelitis optica patients...
October 24, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27770579/febrile-infection-related-epilepsy-syndrome-treated-with-anakinra
#18
Daniel L Kenney-Jung, Annamaria Vezzani, Robert J Kahoud, Reghann G LaFrance-Corey, Mai-Lan Ho, Theresa Wampler Muskardin, Elaine C Wirrell, Charles L Howe, Eric T Payne
Febrile infection-related epilepsy syndrome (FIRES) is a devastating epileptic encephalopathy with limited treatment options and an unclear etiology. Anakinra is a recombinant version of the human interleukin-1 receptor antagonist used to treat autoinflammatory disorders. This is the first report of anakinra for treatment of a child with super-refractory status epilepticus secondary to FIRES. Anakinra was well tolerated and effective. Cerebral spinal fluid analysis revealed elevated levels of proinflammatory cytokines before treatment that normalized on anakinra, suggesting a potential pathogenic role for neuroinflammation in FIRES...
October 22, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27766665/early-lipofuscin-accumulation-in-frontal-lobe-epilepsy
#19
Joan Yw Liu, Cheryl Reeves, Beate Diehl, Antonietta Coppola, Aliya Al-Hajri, Chandrashekar Hoskote, Salim Al Mughairy, Mohamed Tachrount, Michael Groves, Zuzanna Michalak, Kevin Mills, Andrew W McEvoy, Anna Miserocchi, Sanjay M Sisodiya, Maria Thom
OBJECTIVE: This study reports on a novel brain pathology in young patients with Frontal Lobe Epilepsy that is distinct from Focal Cortical Dysplasia. METHODS: Surgical specimens from twenty young adults with frontal lobe epilepsy (mean age, 30 years) were investigated with histological/immunohistochemical markers for cortical laminar architecture, mammalian target of rapamycin pathway activation and inhibition, cellular autophagy, and synaptic vesicle-mediated trafficking as well as proteomics analysis...
October 20, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27761943/adaptive-working-memory-training-improved-brain-function-in-hiv-seropositive-patients
#20
Linda Chang, Gro C Løhaugen, Tamara Andres, Caroline S Jiang, Vanessa Douet, Naomi Tanizaki, Christina Walker, Deborrah Castillo, Ahnate Lim, Jon Skranes, Chad Otoshi, Eric N Miller, Thomas M Ernst
OBJECTIVES: We aimed to evaluate the effectiveness of an adaptive-working memory training (WMT) program, the corresponding neural correlates, and LMX1A-rs4657412 polymorphism on the adaptive-WMT, in HIV-participants compared to seronegative controls (SN). METHODS: 201/206 qualified participants completed baseline assessments before randomization to 25-sessions of adaptive-WMT or non-adaptive-WMT. 74/76 (34HIV, 42SN) completed adaptive-WMT and all 40 completed non-adaptive-WMT (20HIV, 20SN) and were assessed after 1-month, and 55 adaptive-WMT-participants were also assessed after 6-months...
October 19, 2016: Annals of Neurology
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