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Annals of Clinical and Translational Neurology

Alfred X Sun, Huck-Hui Ng, Eng-King Tan
The recent technology of 3D cultures of cellular aggregates derived from human stem cells have led to the emergence of tissue-like structures of various organs including the brain. Brain organoids bear molecular and structural resemblance with developing human brains, and have been demonstrated to recapitulate several physiological and pathological functions of the brain. Here we provide an overview of the development of brain organoids for the clinical community, focusing on the current status of the field with an critical evaluation of its translational value...
February 2018: Annals of Clinical and Translational Neurology
James P Orengo, Pravin Khemani, John W Day, Jun Li, Carly E Siskind
We describe a family with Charcot Marie Tooth disease type 4J presenting with features of Charcot Marie Tooth disease plus parkinsonism and aphemia. Genetic testing found two variants in the FIG4 gene: c.122T>C (p.I41T) - the most common Charcot Marie Tooth disease type 4J variant - and c.1949-10T>G (intronic). Proband fibroblasts showed absent FIG4 protein on western blot, and skipping of exon 18 by RT-PCR. As most patients with Charcot Marie Tooth disease type 4J do not have central nervous system deficits, we postulate the intronic variant and I41T mutation together are causing loss of FIG4 protein and subsequently the central nervous system findings in our family...
February 2018: Annals of Clinical and Translational Neurology
David S Lynch, Viorica Chelban, Jana Vandrovcova, Alan Pittman, Nicholas W Wood, Henry Houlden
We describe a consanguineous family in which two brothers were affected by childhood onset spastic ataxia with optic atrophy and loss of motor and language skills. Through a combination of homozygosity mapping and whole-genome sequencing, we identified a homozygous copy number variant in GLS as the cause. The duplication leads to complete knockout of GLS expression. GLS encodes the brain- and kidney-specific enzyme glutaminase, which hydrolyzes glutamine for the production of glutamate, the most abundant central nervous system neurotransmitter...
February 2018: Annals of Clinical and Translational Neurology
Rui-Juan Lv, Hai-Tao Ren, Hong-Zhi Guan, Tao Cui, Xiao-Qiu Shao
Objective: The purpose of this study is to analyze the seizure semiologic characteristics of patients with autoimmune epilepsy (AE) and describe the investigation characteristics of AE using a larger sample size. Methods: This observational retrospective case series study was conducted from a tertiary epilepsy center between May 2014 and March 2017. Cases of new-onset seizures were selected based on laboratory evidence of autoimmunity. At the same time, typical mesial temporal lobe epilepsy (MTLE) patients with hippocampal sclerosis (HS) were recruited as the control group from the subjects who underwent presurgical evaluation during the same period...
February 2018: Annals of Clinical and Translational Neurology
Daniel M Goldenholz, Shira R Goldenholz, Robert Moss, Jacqueline French, Daniel Lowenstein, Ruben Kuzniecky, Sheryl Haut, Sabrina Cristofaro, Kamil Detyniecki, John Hixson, Philippa Karoly, Mark Cook, Alex Strashny, William H Theodore
Background: There is currently no formal method for predicting the range expected in an individual's seizure counts. Having access to such a prediction would be of benefit for developing more efficient clinical trials, but also for improving clinical care in the outpatient setting. Methods: Using three independently collected patient diary datasets, we explored the predictability of seizure frequency. Three independent seizure diary databases were explored: SeizureTracker ( n = 3016), Human Epilepsy Project ( n = 93), and NeuroVista ( n = 15)...
February 2018: Annals of Clinical and Translational Neurology
A K M G Muhammad, Kevin Kim, Irina Epifantseva, Arwin Aghamaleky-Sarvestany, Megan E Simpkinson, Sharon Carmona, Jesse Landeros, Shaughn Bell, John Svaren, Robert H Baloh
Objective: To investigate transplantation of rat Schwann cells or human iPSC-derived neural crest cells and derivatives into models of acquired and inherited peripheral myelin damage. Methods: Primary cultured rat Schwann cells labeled with a fluorescent protein for monitoring at various times after transplantation. Human-induced pluripotent stem cells (iPSCs) were differentiated into neural crest stem cells, and subsequently toward a Schwann cell lineage via two different protocols...
February 2018: Annals of Clinical and Translational Neurology
Benjamin D S Clarkson, Misha S Patel, Reghann G LaFrance-Corey, Charles L Howe
Objective: Injury-associated axon-intrinsic signals are thought to underlie pathogenesis and progression in many neuroinflammatory and neurodegenerative diseases, including multiple sclerosis (MS). Retrograde interferon gamma (IFN γ ) signals are known to induce expression of major histocompatibility class I (MHC I) genes in murine axons, thereby increasing the susceptibility of these axons to attack by antigen-specific CD8+ T cells. We sought to determine whether the same is true in human neurons...
February 2018: Annals of Clinical and Translational Neurology
Henrietta Wellington, Ross W Paterson, Aida Suárez-González, Teresa Poole, Chris Frost, Ulrika Sjöbom, Catherine F Slattery, Nadia K Magdalinou, Manja Lehmann, Eric Portelius, Nick C Fox, Kaj Blennow, Henrik Zetterberg, Jonathan M Schott
Objective: To assess whether high levels of cerebrospinal fluid neurogranin are found in atypical as well as typical Alzheimer's disease. Methods: Immunoassays were used to measure cerebrospinal fluid neurogranin in 114 participants including healthy controls ( n  = 27), biomarker-proven amnestic Alzheimer's disease ( n  = 68), and the atypical visual variant of Alzheimer's ( n  = 19) according to international criteria. CSF total-tau, Aβ42, and neurofilament light concentrations were investigated using commercially available assays...
February 2018: Annals of Clinical and Translational Neurology
Yi-Je Chen, Hai M Nguyen, Izumi Maezawa, Lee-Way Jin, Heike Wulff
Objective: Inhibitors of the voltage-gated K+ channel Kv1.3 are currently in development as immunomodulators for the treatment of autoimmune diseases. As Kv1.3 is also expressed on microglia and has been shown to be specifically up-regulated on "M1-like" microglia, we here tested the therapeutic hypothesis that the brain-penetrant small-molecule Kv1.3-inhibitor PAP-1 reduces secondary inflammatory damage after ischemia/reperfusion. Methods: We studied microglial Kv1...
February 2018: Annals of Clinical and Translational Neurology
Meiling Wu, Huadan Zhang, Jiejing Kai, Feng Zhu, Jingyin Dong, Ziwei Xu, Michael Wong, Ling-Hui Zeng
Objective: Whether activation or inhibition of the mTOR pathway is beneficial to ischemic injury remains controversial. It may result from the different reaction of ischemic penumbra and core to modulation of mTOR pathway after cerebral ischemia-reperfusion injury in rats. Methods: Longa's middle cerebral artery occlusion (MCAO) method was conducted to induce the focal cerebral ischemia-reperfusion. Western blot analysis was used to examine the protein expression involving mTOR pathway, apoptosis, and autophagy-related proteins...
February 2018: Annals of Clinical and Translational Neurology
Kathrin Reetz, Roberto Rodríguez-Labrada, Imis Dogan, Shahram Mirzazade, Sandro Romanzetti, Jörg B Schulz, Edilia M Cruz-Rivas, Jose A Alvarez-Cuesta, Raul Aguilera Rodríguez, Yanetza Gonzalez Zaldivar, Georg Auburger, Luis Velázquez-Pérez
Objective: Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominantly inherited neurodegenerative disease mainly affecting the cerebellum and brainstem. In this Cuban-German research collaboration, we aimed to characterize atrophy patterns and associations with clinical measures in preclinical and manifest SCA2. Methods: In this study, 16 nonmanifest SCA2 mutation carriers, 26 manifest patients with SCA2, and 18 healthy control subjects underwent magnetic resonance imaging, as well as genetic and clinical characterization including assessment of ataxia (Scale for the Assessment and Rating of Ataxia) and saccade velocity in Cuba were enrolled...
February 2018: Annals of Clinical and Translational Neurology
Josette Mancini, Jean-Christophe Dubus, Elisabeth Jouve, Jean-Christophe Roux, Patricia Franco, Emmanuelle Lagrue, Pierre Castelnau, Claude Cances, Yves Chaix, Christelle Rougeot-Jung, Catherine Cornu, Vincent Desportes, Louis Vallée, Nadia Bahi-Buisson, Romain Truillet, Laurence Attolini, Laurent Villard, Olivier Blin, Joëlle Micallef
Objective: Rett Syndrome (RTT) is a severe neurodevelopmental condition with breathing disorders, affecting around one in 10,000 female births. Desipramine, a noradrenaline reuptake inhibitor, reduced the number of apneas in Mecp2-deficient mice, a model of RTT. We planned a phase 2 trial to test its efficacy and its safety on breathing patterns in 36 girls with RTT. Methods: The trial was a 6-month, multicenter, randomized, double-blind, placebo-controlled study registered with ClinicalTrials...
February 2018: Annals of Clinical and Translational Neurology
Zhenwei Yu, Tessandra Stewart, Jan Aasly, Min Shi, Jing Zhang
Accurate early diagnosis of Parkinson's disease is essential. Using data available from the Parkinson's Progression Markers Initiative study, we identified a multivariate logistic regression model including cerebrospinal fluid α-synuclein, olfactory function, age, and gender that achieved a high degree of discrimination between patients with Parkinson's disease and healthy control or scan without evidence of dopaminergic deficit participants. Additionally, the model could predict the conversion of scan without evidence of dopaminergic deficit to Parkinson's disease, as well as discriminate between normal and impaired subjects with leucine-rich repeat kinase 2 mutations...
January 2018: Annals of Clinical and Translational Neurology
Hector Garcia-Moreno, Hiva Fassihi, Robert P E Sarkany, Julie Phukan, Thomas Warner, Alan R Lehmann, Paola Giunti
Xeroderma pigmentosum is characterized by cutaneous, ophthalmological, and neurological features. Although it is typical of childhood, late presentations can mimic different neurodegenerative conditions. We report two families presenting as Huntington's disease-like syndromes. The first case (group G) presented with neuropsychiatric features, cognitive decline and chorea. Typical lentigines were only noticed after the neurological disease started. The second case (group B) presented adult-onset chorea and neuropsychiatric symptoms after an aggressive ocular melanoma...
January 2018: Annals of Clinical and Translational Neurology
Sebastian Dieguez, Mélanie Kaeser, Camille Roux, Jérôme Cottet, Jean-Marie Annoni, Eric Schmidlin
Patients with supernumerary phantom limb report experiencing an additional limb duplicating its physical counterpart, usually following a stroke with sensorimotor disturbances. Here, we report a short-lasting case of a right upper supernumerary phantom limb with unusual visuomotor features in a healthy participant during a pure Jacksonian motor seizure unexpectedly induced by continuous Theta-Burst Stimulation over the left primary motor cortex. Electromyographic correlates of the event followed the phenomenological pattern of sudden appearance and brutal dissolution of the phantom, adding credit to the hypothesis that supernumerary phantom limb results from a dynamic resolution of conflictual multimodal information...
January 2018: Annals of Clinical and Translational Neurology
William Gaetz, Sudha K Kessler, Tim P L Roberts, Jeffrey I Berman, Todd J Levy, Michelle Hsia, Deborah Humpl, Erin S Schwartz, Sandra Amaral, Ben Chang, Lawrence Scott Levin
In this repeated measures case study, we show that sensory deafferentation after limb amputation leads to changes in cortical somatotopic maps which are reversible after restoration of sensory input. Using magnetoencephalography (MEG), we observed in a child with bilateral hand transplants large-scale shifts in somatosensory lip cortical representation from anatomic hand area to anatomic face region. After recovery of tactile sensation in the digits, responses to finger stimulation were localized to orthotopic sensory cortex, but with atypical electrophysiologic features (amplitude and frequencies)...
January 2018: Annals of Clinical and Translational Neurology
Tomas Uher, Jan Krasensky, Lukas Sobisek, Jana Blahova Dusankova, Zdenek Seidl, Eva Kubala Havrdova, Maria Pia Sormani, Dana Horakova, Tomas Kalincik, Manuela Vaneckova
Objective: To investigate whether the strength of the association between magnetic resonance imaging (MRI) metrics and cognitive outcomes differs between various multiple sclerosis subpopulations. Methods: A total of 1052 patients were included in this large cross-sectional study. Brain MRI (T1 and T2 lesion volume and brain parenchymal fraction) and neuropsychological assessment (Brief International Cognitive Assessment for Multiple Sclerosis and Paced Auditory Serial Addition Test) were performed...
January 2018: Annals of Clinical and Translational Neurology
Benoit C Mouzon, Corbin Bachmeier, Joseph O Ojo, Christopher M Acker, Scott Ferguson, Daniel Paris, Ghania Ait-Ghezala, Gogce Crynen, Peter Davies, Michael Mullan, William Stewart, Fiona Crawford
Objective: Exposure to repetitive concussion, or mild traumatic brain injury (mTBI), has been linked with increased risk of long-term neurodegenerative changes, specifically chronic traumatic encephalopathy (CTE). To date, preclinical studies largely have focused on the immediate aftermath of mTBI, with no literature on the lifelong consequences of mTBI in these models. This study provides the first account of lifelong neurobehavioral and histological consequences of repetitive mTBI providing unique insight into the constellation of evolving and ongoing pathologies with late survival...
January 2018: Annals of Clinical and Translational Neurology
Takao Hashimoto, Abirami Muralidharan, Kunihiro Yoshida, Tetsuya Goto, Takehiro Yako, Kenneth B Baker, Jerrold L Vitek
Objectives: We investigated the effects of deep brain stimulation (DBS) or lesions of the ventral intermediate nucleus (Vim) of the thalamus for spinocerebellar ataxia (SCA) and examined the pathophysiological role of neuronal activity of the Vim underlying ataxia. Methods: Five patients with SCA with cortical atrophy (ages 60-69 years; 2 sporadic and three familial SCA) and five patients with essential tremor (ET) (ages 57-71 years) were treated with Vim surgery...
January 2018: Annals of Clinical and Translational Neurology
Emilie W Kjeldsen, Anne Tybjærg-Hansen, Børge G Nordestgaard, Ruth Frikke-Schmidt
Objective: ATP-binding-cassette transporter A7(ABCA7) is suggested to be involved in lipid transport as well as in phagocytosis of amyloid-β in the brain. We tested the hypothesis that a common genetic variant in ABCA7 is associated with dementia, ischemic heart disease, ischemic cerebrovascular disease, and with lipid levels in the general population, independent of the common apolipoprotein E(APOE) genotype. Methods: For this purpose, we genotyped a common genetic variant in ABCA7, identified in genome-wide-association-studies of Alzheimer's disease, in 104,258 individuals from the Danish general population, and also meta-analyzed our results with publicly available consortia data...
January 2018: Annals of Clinical and Translational Neurology
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