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https://www.readbyqxmd.com/read/28917165/cerebellar-induced-differential-polyglot-aphasia-a-neurolinguistic-and-fmri-study
#1
Peter Mariën, Kim van Dun, Johanna Van Dormael, Dorien Vandenborre, Stefanie Keulen, Mario Manto, Jo Verhoeven, Jubin Abutalebi
Research has shown that linguistic functions in the bilingual brain are subserved by similar neural circuits as in monolinguals, but with extra-activity associated with cognitive and attentional control. Although a role for the right cerebellum in multilingual language processing has recently been acknowledged, a potential role of the left cerebellum remains largely unexplored. This paper reports the clinical and fMRI findings in a strongly right-handed (late) multilingual patient who developed differential polyglot aphasia, ataxic dysarthria and a selective decrease in executive function due to an ischemic stroke in the left cerebellum...
September 13, 2017: Brain and Language
https://www.readbyqxmd.com/read/28904462/clinical-spectrum-therapeutic-outcomes-and-prognostic-predictors-in-sjogren-s-syndrome-associated-neuropathy
#2
Ajith Sivadasan, Karthik Muthusamy, Bimal Patel, Rohit Ninan Benjamin, A T Prabhakar, Vivek Mathew, Sanjith Aaron, Mathew Alexander
OBJECTIVES: There are limited data regarding long-term follow-up and therapeutic outcomes in Sjogren's syndrome (SS)-associated peripheral neuropathy. In this study, we aim to study the clinical, electrophysiological spectrum and therapeutic responses among the different subtypes of SS-associated neuropathy. The predictors of suboptimal treatment response will be identified. METHODS: The study included a retrospective cohort of patients with SS-associated neuropathy between January 2012 and November 2015...
July 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28887803/psychosis-in-spinocerebellar-ataxias-a-case-series-and-study-of-tyrosine-hydroxylase-in-substantia-nigra
#3
Katherine W Turk, Margaret E Flanagan, Samuel Josephson, C Dirk Keene, Suman Jayadev, Thomas D Bird
Spinocerebellar ataxias are a genetically heterogeneous group of degenerative diseases typically characterized by progressive ataxia and to various degrees, neuropathy, amyotrophy, and ocular abnormalities. There is increasing evidence for non-motor manifestations associated with cerebellar syndromes including cognitive and psychiatric features. We studied a retrospective clinical case series of eight subjects with spinocerebellar ataxias (SCAs) 2, 3, 7, and 17, all displaying features of psychosis, and also measured tyrosine hydroxylase (TH) staining of the substantia nigra (SN) at autopsy, among four of the subjects...
September 8, 2017: Cerebellum
https://www.readbyqxmd.com/read/28863007/intraoperative-neurophysiologic-monitoring-for-prediction-of-postoperative-neurological-improvement-in-a-child-with-chiari-type-i-malformation
#4
Yukari Kawasaki, Susumu Uchida, Kouhei Onishi, Masako Toyokuni, Kazuo Okanari, Minoru Fujiki
INTRODUCTION: Although many surgical treatment strategies for Chiari malformation type I (CM-I) have been reported, the most appropriate surgical technique remains controversial. It is wholly ascribable to the complicacy of pathological condition in CM-I. Recently, intraoperative neurophysiologic monitoring (INM) is becoming prevalent in spinal surgery. Indeed, motor-evoked potentials (MEPs) monitoring and somatosensory-evoked potentials (SSEPs) monitoring are standard tools to minimize the risk of neurologic injury and postoperative deficits...
August 31, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28856173/a-case-of-brown-vialetto-van-laere-syndrome-due-to-a-novel-mutation-in-slc52a3-gene-clinical-course-and-response-to-riboflavin
#5
Venkatraman Thulasi, Aravindhan Veerapandiyan, Beth A Pletcher, Chun M Tong, Xue Ming
Brown-Vialetto-Van Laere syndrome is a rare disorder characterized by motor, sensory, and cranial neuronopathies, associated with mutations in SLC52A2 and SLC52A3 genes that code for human riboflavin transporters RFVT2 and RFVT3, respectively. The authors describe the clinical course of a 6-year-old girl with Brown-Vialetto-Van Laere syndrome and a novel homozygous mutation c.1156T>C in the SLC52A3 gene, who presented at the age of 2.5 years with progressive brain stem dysfunction including ptosis, facial weakness, hearing loss, dysphagia, anarthria with bilateral vocal cord paralysis, and ataxic gait...
January 2017: Child neurology open
https://www.readbyqxmd.com/read/28844644/role-of-corticotropin-releasing-factor-in-cerebellar-motor-control-and-ataxia
#6
Yi Wang, Zhang-Peng Chen, Qian-Xing Zhuang, Xiao-Yang Zhang, Hong-Zhao Li, Jian-Jun Wang, Jing-Ning Zhu
Cerebellar ataxia, characterized by motor incoordination, postural instability, and gait abnormality [1-3], greatly affects daily activities and quality of life. Although accumulating genetic and non-genetic etiological factors have been revealed [4-7], effective therapies for cerebellar ataxia are still lacking. Intriguingly, corticotropin-releasing factor (CRF), a peptide hormone and neurotransmitter [8, 9], is considered a putative neurotransmitter in the olivo-cerebellar system [10-14]. Notably, decreased levels of CRF in the inferior olive (IO), the sole origin of cerebellar climbing fibers, have been reported in patients with spinocerebellar degeneration or olivopontocerebellar atrophy [15, 16], yet little is known about the exact role of CRF in cerebellar motor coordination and ataxia...
September 11, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28835827/epilepsy-ataxia-sensorineural-deafness-tubulopathy-syndrome-in-a-european-child-with-kcnj10-mutations-a-case-report
#7
Antigone Papavasiliou, Katerina Foska, John Ioannou, Mato Nagel
BACKGROUND: Epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome is a multi-organ disorder that links to autosomal recessive mutations in the KCNJ10 gene, which encodes for the Kir4.1 potassium channel. It is mostly described in consanguineous, non-European families. CASE REPORT: A European male of non-consanguineous birth, with early-onset, static ataxic motor disorder, intellectual disability and epilepsy, imitating cerebral palsy, presented with additional findings of renal tubulopathy, sensorineural deafness and normal neuroimaging leading to the diagnosis of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome...
2017: SAGE open medical case reports
https://www.readbyqxmd.com/read/28830896/patient-with-niemann-pick-disease-type-c-over-20-years-follow-up
#8
Kazuo Abe, Norio Sakai
We report a 37-year-old woman with Niemann-Pick disease type C (NPC) 1. At the age of 8 years, she presented slow running followed by both fingers dystonia at the age of 10 years. At the age of 16 years, she developed declined scholastic achievement. On her first visit at the age of 17 years, she showed dystonia, ataxic gait and vertical supranuclear gaze palsy. We suspected it was NPC. She presented atrophies in the frontal lobes, brainstem and cerebellum in a brain MRI. She presented hepatomegalies and splenomegalies in an abdominal CT...
August 22, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28826917/missense-mutation-in-the-itpr1-gene-presenting-with-ataxic-cerebral-palsy-description-of-an-affected-family-and-literature-review
#9
Joyutpal Das, James Lilleker, Hannah Shereef, John Ealing
The inositol 1,4,5-triphosphate receptor type 1 (ITPR1) gene on chromosome 3 belongs to a family of genes encoding intracellular calcium channel proteins. Such channels are located primarily within the endoplasmic reticular membrane and release Ca(2+), an intracellular messenger, which governs numerous intracellular and extracellular functions. We report a family with infantile-onset cerebellar ataxia with delayed motor development and intellectual disability caused by a heterozygous c.805C>T, p.Arg269Trp missense mutation in ITPR1...
July 8, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28807751/a-novel-pmca3-mutation-in-an-ataxic-patient-with-hypomorphic-phosphomannomutase-2-pmm2-heterozygote-mutations-biochemical-characterization-of-the-pump-defect
#10
Mattia Vicario, Tito Calì, Domenico Cieri, Francesca Vallese, Raissa Bortolotto, Raffaele Lopreiato, Francesco Zonta, Marta Nardella, Alessia Micalizzi, Dirk J Lefeber, Enza Maria Valente, Enrico Bertini, Giuseppe Zanotti, Ginevra Zanni, Marisa Brini, Ernesto Carafoli
The neuron-restricted isoform 3 of the plasma membrane Ca(2+) ATPase plays a major role in the regulation of Ca(2+) homeostasis in the brain, where the precise control of Ca(2+) signaling is a necessity. Several function-affecting genetic mutations in the PMCA3 pump associated to X-linked congenital cerebellar ataxias have indeed been described. Interestingly, the presence of co-occurring mutations in additional genes suggest their synergistic action in generating the neurological phenotype as digenic modulators of the role of PMCA3 in the pathologies...
August 11, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28805093/monitoring-disease-progression-in-spinocerebellar-ataxias-implications-for-treatment-and-clinical-research
#11
Lidia Sarro, Lorenzo Nanetti, Anna Castaldo, Caterina Mariotti
Spinocerebellar ataxias (SCAs) are autosomal dominant diseases characterized by progressive gait and limb incoordination, disequilibrium, dysarthria, and eye movement disturbances. Approximately 40 genetic subtypes of SCAs are known and classified according to the causative disease gene/locus. With the possibility of the specific genetic diagnosis in patients and at-risk family members, several clinical scales and functional tests have been validated and used in ataxic patients with the purposes of measuring the entity of disease progression in natural history studies and the possible slowing of neurological impairment in therapeutic trials...
August 13, 2017: Expert Review of Neurotherapeutics
https://www.readbyqxmd.com/read/28796904/kinematic-discrimination-of-ataxia-in-horses-is-facilitated-by-blindfolding
#12
E Olsen, N Fouche, H Jordan, T Pfau, R J Piercy
BACKGROUND: Agreement amongst experienced clinicians is poor when assessing presence and severity of ataxia, especially when signs are mild. Consequently, objective gait measurements might be beneficial for assessment of horses with neurological diseases. OBJECTIVES: To assess diagnostic criteria using motion capture to measure variability of spatial gait-characteristics and swing duration derived from ataxic and non-ataxic horses and to assess if variability increases with blindfolding...
August 10, 2017: Equine Veterinary Journal
https://www.readbyqxmd.com/read/28792617/distinctive-cerebral-neuropathology-in-an-adult-case-of-sando-syndrome
#13
Daniel Kirschenbaum, Carola Hedberg-Oldfors, Anders Oldfors, Eduard Scherer, Herbert Budka
The syndrome of sensory ataxic neuropathy with dysarthria and ophthalmoplegia (SANDO), defined genetically by mutations of the gene for the mitochondrial DNA polymerase-γ, POLG, was first described in 1997 (1). Since then, several case reports with various POLG, or more rarely PEO1, mutations have been published (2-4), some specifically addressing muscle and nerve pathology (1, 3), nerve electrophysiology (5), or radiological aspects (4, 6, 7). This article is protected by copyright. All rights reserved.
August 9, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28783886/cerebrospinal-vascular-diseases-misdiagnosed-as-decompression-illness-the-importance-of-considering-other-neurological-diagnoses
#14
Kiyotaka Kohshi, Yoshitaka Morimatsu, Hideki Tamaki, Yukio Murata, Katsuko Kohshi, Tatsuya Ishitake, Petar J Denoble
The diagnosis of decompression illness (DCI), which is based on a history of decompression and clinical findings, can sometimes be confounded with other vascular events of the central nervous system. The authors report three cases of divers who were urgently transported to a hyperbaric facility for hyperbaric oxygen treatment of DCI which at admission turned out to be something else. The first case, a 45-year-old experienced diver with unconsciousness, was clinically diagnosed as having experienced subarachnoid hemorrhage, which was confirmed by CT scan...
July 2017: Undersea & Hyperbaric Medicine: Journal of the Undersea and Hyperbaric Medical Society, Inc
https://www.readbyqxmd.com/read/28780411/increased-ethanol-drinking-in-humanized-mice-expressing-the-mu-opioid-receptor-a118g-polymorphism-are-mediated-through-sex-specific-mechanisms
#15
Angela N Henderson-Redmond, Tammy E Lowe, Xi B Tian, Daniel J Morgan
The A118G single nucleotide polymorphism (SNP) of the mu-opioid receptor gene (Oprm1) has been implicated in mediating the rewarding effects of alcohol. Clinical and preclinical studies suggest that the G allele may confer a genetic vulnerability to alcohol dependence, though it remains unknown whether these effects are sex-specific. We used male and female mice homozygous for the "humanized" 118AA or 118GG alleles to determine whether the A118G SNP potentiates ethanol consumption in a sex-specific manner in both the two-bottle choice and drinking-in-the-dark (DID) paradigms...
August 2, 2017: Brain Research Bulletin
https://www.readbyqxmd.com/read/28767196/two-unrelated-children-with-overlapping-6q25-3-deletions-motor-speech-disorders-and-language-delays
#16
Beate Peter, Hope Lancaster, Caitlin Vose, Amna Fares, Isabelle Schrauwen, Matthew Huentelman
Interstitial and terminal 6q25 deletions are associated with developmental delays, hypotonia, eye pathologies, craniofacial dysmorphologies, and structural brain anomalies. In most cases, speech and language deficits are not described in detail. We report on a case (Patient 1, age 7 years) with a de novo 6q25.3-qter deletion, 11.1 Mb long and encompassing 108 genes, and a case (Patient 2, age 5 years) with an inherited interstitial 6q25.3 deletion, located within Patient 1's deletion region and 403 kb long, the smallest 6q25 deletion reported to date...
August 2, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28761930/prevalence-of-spinocerebellar-ataxia-36-in-a-us-population
#17
Juliana M Valera, Tatyana Diaz, Lauren E Petty, Beatriz Quintáns, Zuleima Yáñez, Eric Boerwinkle, Donna Muzny, Dmitry Akhmedov, Rebecca Berdeaux, Maria J Sobrido, Richard Gibbs, James R Lupski, Daniel H Geschwind, Susan Perlman, Jennifer E Below, Brent L Fogel
OBJECTIVE: To assess the prevalence and clinical features of individuals affected by spinocerebellar ataxia 36 (SCA36) at a large tertiary referral center in the United States. METHODS: A total of 577 patients with undiagnosed sporadic or familial cerebellar ataxia comprehensively evaluated at a tertiary referral ataxia center were molecularly evaluated for SCA36. Repeat primed PCR and fragment analysis were used to screen for the presence of a repeat expansion in the NOP56 gene...
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28729347/lethal-avian-influenza-a-h5n1-virus-induces-ataxic-breathing-in-mice-with-apoptosis-of-pre-botzinger-complex-neurons-expressing-neurokinin-1-receptor
#18
Jianguo Zhuang, Na Zang, Chunyan Ye, Fadi Xu
BACKGROUND: Lethal influenza A (H5N1) induces respiratory failure in humans. Although it also causes death at 7 day postinfection (dpi) in mice, the development of the respiratory failure and the viral impact on pre-Botzinger complex (PBC) neurons expressing neurokinin 1 receptor (NK1R), the respiratory rhythm-generator, have not been explored. METHODS: Body temperature, weight, ventilation, arterial blood pH and gases were measured at 0, 2, 4, and 6 dpi in control, lethal HK483 and non-lethal HK486 viral infected mice...
July 20, 2017: American Journal of Physiology. Lung Cellular and Molecular Physiology
https://www.readbyqxmd.com/read/28719951/neuronal-apoptosis-pathological-basis-of-behavioral-dysfunctions-induced-by-angiostrongylus-cantonensis-in-rodents-model
#19
Shiqi Luo, Lisi OuYang, Jie Wei, Feng Wu, Zhongdao Wu, Wanlong Lei, Dongjuan Yuan
Angiostrongylus cantonensis invades the central nervous system (CNS) of humans to induce eosinophilic meningitis and meningoencephalitis and leads to persistent headache, cognitive dysfunction, and ataxic gait. Infected mice (nonpermissive host), admittedly, suffer more serious pathological injuries than rats (permissive host). However, the pathological basis of these manifestations is incompletely elucidated. In this study, the behavioral test, histological and immunohistochemical techniques, and analysis of apoptotic gene expression, especially caspase-3, were conducted...
June 2017: Korean Journal of Parasitology
https://www.readbyqxmd.com/read/28716012/case-reports-of-juvenile-gm1-gangliosidosisis-type-ii-caused-by-mutation-in-glb1-gene
#20
Parvaneh Karimzadeh, Samaneh Naderi, Farzaneh Modarresi, Hassan Dastsooz, Hamid Nemati, Tayebeh Farokhashtiani, Bibi Shahin Shamsian, Soroor Inaloo, Mohammad Ali Faghihi
BACKGROUND: Type II or juvenile GM1-gangliosidosis is an autosomal recessive lysosomal storage disorder, which is clinically distinct from infantile form of the disease by the lack of characteristic cherry-red spot and hepatosplenomegaly. The disease is characterized by slowly progressive neurodegeneration and mild skeletal changes. Due to the later age of onset and uncharacteristic presentation, diagnosis is frequently puzzled with other ataxic and purely neurological disorders. Up to now, 3-4 types of GM1-gangliosidosis have been reported and among them type I is the most common phenotype with the age of onset around 6 months...
July 17, 2017: BMC Medical Genetics
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