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https://www.readbyqxmd.com/read/28516904/lhx1-5-control-dendritogenesis-and-spine-morphogenesis-of-purkinje-cells-via-regulation-of-espin
#1
Nga Chu Lui, Wing Yip Tam, Caiji Gao, Jian-Dong Huang, Chi Chiu Wang, Liwen Jiang, Wing Ho Yung, Kin Ming Kwan
In the cerebellar cortex, Purkinje cells (PCs) receive signals from different inputs through their extensively branched dendrites and serve as an integration centre. Defects in the dendritic development of PCs thus disrupt cerebellar circuitry and cause ataxia. Here we report that specific inactivation of both Lhx1 and Lhx5 in postnatal PCs results in ataxic mutant mice with abnormal dendritic development. The PCs in the mutants have reduced expression of Espin, an F-actin cytoskeleton regulator. We show that Espin expression is transcriptionally activated by Lhx1/5...
May 18, 2017: Nature Communications
https://www.readbyqxmd.com/read/28494826/angelman-syndrome-identification-and-management
#2
Daniela Bonello, Francesca Camilleri, Jean Calleja-Agius
Angelman syndrome (AS) is a neurobehavioral and genetically determined condition, which affects approximately 1 in 15,000 individuals. It is caused by various genetic mutations and deletions of the maternally-inherited UBE3A gene, on the 15q11-13 chromosomal region. The UBE3A gene, which encodes E3 ubiquitin ligase, shows tissue-specific imprinting, being expressed entirely from the maternal allele.The diagnosis of AS is confirmed either by methylation test or by mutation analysis. A more severe clinical picture is linked with the deletion phenotype...
May 1, 2017: Neonatal Network: NN
https://www.readbyqxmd.com/read/28494813/not-only-dominant-not-only-optic-atrophy-expanding-the-clinical-spectrum-associated-with-opa1-mutations
#3
Alessia Nasca, Teresa Rizza, Mara Doimo, Andrea Legati, Andrea Ciolfi, Daria Diodato, Cristina Calderan, Gianfranco Carrara, Eleonora Lamantea, Chiara Aiello, Michela Di Nottia, Marcello Niceta, Costanza Lamperti, Anna Ardissone, Stefania Bianchi-Marzoli, Giancarlo Iarossi, Enrico Bertini, Isabella Moroni, Marco Tartaglia, Leonardo Salviati, Rosalba Carrozzo, Daniele Ghezzi
BACKGROUND: Heterozygous mutations in OPA1 are a common cause of autosomal dominant optic atrophy, sometimes associated with extra-ocular manifestations. Few cases harboring compound heterozygous OPA1 mutations have been described manifesting complex neurodegenerative disorders in addition to optic atrophy. RESULTS: We report here three patients: one boy showing an early-onset mitochondrial disorder with hypotonia, ataxia and neuropathy that was severely progressive, leading to early death because of multiorgan failure; two unrelated sporadic girls manifesting a spastic ataxic syndrome associated with peripheral neuropathy and, only in one, optic atrophy...
May 12, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28490024/a-novel-ataxic-mutant-mouse-line-having-sensory-neuropathy-shows-heavy-iron-deposition-in-kidney
#4
Hisashi Hashimoto, Tomonori Kawabe, Takahiro Fukuda, Moriaki Kusakabe
BACKGROUND/AIMS: A novel ataxic mouse line was established from the offspring of a male mouse administered cyclophosphamide in a juvenile period. METHODS: We have attempted to examine the phenotype and histopathological changes of affected mice. Furthermore, linkage analysis and sequencing of the mutant was performed to reveal the causative gene locus. RESULTS AND CONCLUSION: The affected mouse was characterized by heavy hind limb ataxia with gait disorder, which was first recognized at about 4 weeks of age and slowly progressed with advancing age...
May 11, 2017: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/28489334/diagnosis-of-copan-by-whole-exome-sequencing-waking-up-a-sleeping-tiger-s-eye
#5
Christina Evers, Angelika Seitz, Birgit Assmann, Thomas Opladen, Stephanie Karch, Katrin Hinderhofer, Martin Granzow, Nagarajan Paramasivam, Roland Eils, Nicolle Diessl, Claus R Bartram, Ute Moog
Neurodegeneration with brain iron accumulation (NBIA) is a group of neurodegenerative disorders characterized by iron accumulation in the basal ganglia. Recently, mutations in CoA synthase (COASY) have been identified as a cause of a novel NBIA subtype (COASY Protein-Associated Neurodegeneration, CoPAN) in two patients with dystonic paraparesis, parkinsonian features, cognitive impairment, behavior abnormalities, and axonal neuropathy. COASY encodes an enzyme required for Coenzyme A (CoA) biosynthesis. Using whole exome sequencing (WES) we identified compound heterozygous COASY mutations in two siblings with intellectual disability, ataxic gait, progressive spasticity, and obsessive-compulsive behavior...
May 10, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28481932/unmasking-adrenoleukodystrophy-in-a-cohort-of-cerebellar-ataxia
#6
Ying-Hao Chen, Yi-Chung Lee, Yu-Shuen Tsai, Yuh-Cherng Guo, Cheng-Tsung Hsiao, Pei-Chien Tsai, Jin-An Huang, Yi-Chu Liao, Bing-Wen Soong
Adrenoleukodystrophy (ALD) is a rare and progressive neurogenetic disease that may manifest disparate symptoms. The present study aims at investigating the role of ataxic variant of ALD (AVALD) in patients with adult-onset cerebellar ataxia, as well as characterizing their clinical features that distinguish AVALD from other cerebellar ataxias. Mutations in the ATP binding cassette subfamily D member 1 gene (ABCD1) were ascertained in 516 unrelated patients with ataxia. The patients were categorized into three groups: molecularly unassigned hereditary ataxia (n = 118), sporadic ataxia with autonomic dysfunctions (n = 296), and sporadic ataxia without autonomic dysfunctions (n = 102)...
2017: PloS One
https://www.readbyqxmd.com/read/28481794/spect-ct-detection-of-a-communicating-arachnoid-cyst-in-a-patient-with-normal-pressure-hydrocephalus
#7
Lisa Walker, Ali Gholamrezanezhad, Daniel Bucklan, Peter F Faulhaber, James K O'Donnell
A 59-year-old man with history of multiple sclerosis and residual sensory and motor dysfunction presented with progressive lower-extremity weakness, ataxic gait, and intermittent urinary incontinence. Brain MRI demonstrated volume loss with disproportionate ventricular dilatation, but no evidence of infarction or abnormal enhancement. Radionuclide cisternography showed early and persistent ventricular reflux, poor progression of radiopharmaceutical over convexities, and delayed clearance in a pattern consistent with normal pressure hydrocephalus...
May 6, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28464831/principal-component-analysis-for-ataxic-gait-using-a-triaxial-accelerometer
#8
Akira Matsushima, Kunihiro Yoshida, Hirokazu Genno, Shu-Ichi Ikeda
BACKGROUND: It is quite difficult to evaluate ataxic gait quantitatively in clinical practice. The aim of this study was to analyze the characteristics of ataxic gait using a triaxial accelerometer and to develop a novel biomarker of integrated gate parameters for ataxic gait. METHODS: Sixty-one patients with spinocerebellar ataxia (SCA) or multiple system atrophy with predominant cerebellar ataxia (MSA-C) and 57 healthy control subjects were enrolled. The subjects were instructed to walk 10 m for a total of 12 times on a flat floor at their usual walking speed with a triaxial accelerometer attached to their back...
May 2, 2017: Journal of Neuroengineering and Rehabilitation
https://www.readbyqxmd.com/read/28456391/optic-ataxia-and-the-dorsal-visual-steam-re-visited-impairment-in-bimanual-haptic-matching-performed-without-vision
#9
Stephen R Jackson, Laura A Condon, Roger W Newport, Sally Pears, Masud Husain, Nin Bajaj, Michael O'Donoghue
The 'two visual systems' account proposed by Milner and Goodale (1992) argued that visual perception and the visual control of action depend upon functionally distinct and anatomically separable brain systems: a ventral stream of visual processing that mediates visual perception (object identification and recognition) and a dorsal stream of visual processing mediating visually guided action. Compelling evidence for this proposal was provided by the neuropsychological studies of brain injured patients, in particular the contrasting pattern of impaired and preserved visual processing abilities of the visual object agnostic patient [DF] and optic ataxic patients who it was argued presented with impaired dorsal stream function...
April 8, 2017: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
https://www.readbyqxmd.com/read/28446951/power-spectral-density-analysis-of-purkinje-cell-tonic-and-burst-firing-patterns-from-a-rat-model-of-ataxia-and-riluzole-treated
#10
Samira Abbasi, Ataollah Abbasi, Yashar Sarbaz, Mahyar Janahmadi
INTRODUCTION: Purkinje Cell (PC) output displays a complex firing pattern consisting of high frequency sodium spikes and low frequency calcium spikes, and disruption in this firing behavior may contribute to cerebellar ataxia. Riluzole, neuroprotective agent, has been demonstrated to have neuroprotective effects in cerebellar ataxia. Here, the spectral analysis of PCs firing in control, 3-acetylpyridine (3-AP), neurotoxin agent, treated alone and riluzole plus 3-AP treated were investigated to determine changes in the firing properties...
January 2017: Basic and Clinical Neuroscience
https://www.readbyqxmd.com/read/28442211/leigh-like-neuroimaging-features-associated-with-new-biallelic-mutations-in-opa1
#11
Anna Rubegni, Tiziana Pisano, Giacomo Bacci, Alessandra Tessa, Roberta Battini, Elena Procopio, Sabrina Giglio, Rosa Pasquariello, Filippo Maria Santorelli, Renzo Guerrini, Claudia Nesti
Behr syndrome is characterized by the association of early onset optic atrophy, cerebellar ataxia, pyramidal signs, peripheral neuropathy and mental retardation. Recently, some cases were reported to be caused by biallelic mutations in OPA1. We describe an 11-year-old girl (Pt1) and a 7-year-old boy (Pt2) with cognitive delay, ataxic gait and clinical signs suggestive of a peripheral neuropathy, with onset in early infancy. In Pt1 ocular fundus examination revealed optic disk pallor whereas Pt2 exhibited severe optic atrophy...
April 15, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28432641/dentatorubro-pallidoluysian-atrophy-drpla-among-700-families-with-ataxia-in-brazil
#12
Pedro Braga-Neto, José Luiz Pedroso, Gabriel Vasata Furtado, Tailise Conte Gheno, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Orlando G P Barsottini
Dentatorubro-pallidoluysian atrophy (DRPLA) is a spinocerebellar ataxia (SCA) very rare in non-Asian populations. To date, DRPLA was undetected in the general Brazilian population. Adult-onset ataxic patients have been recruited from several Brazilian neurology and neurogenetics centers. CAG lengths at SCA1, SCA2, SCA3/MJD, SCA6, SCA7, SCA12, SCA17 and DRPLA associated genes, and ATTCT expansions at SCA10 gene were studied. A single DRPLA case detected is reported. Proband was a 69-year-old Brazilian woman of mixed ancestry, with a late-onset pure ataxia: her alleles at the associated gene, ATN1, presented 14/52 CAG repeats...
April 21, 2017: Cerebellum
https://www.readbyqxmd.com/read/28426670/mice-expressing-a-hyper-sensitive-form-of-the-cb1-cannabinoid-receptor-cb1-show-modestly-enhanced-alcohol-preference-and-consumption
#13
David J Marcus, Angela N Henderson-Redmond, Maciej Gonek, Michael L Zee, Jill C Farnsworth, Randa A Amin, Mary-Jeanette Andrews, Brian J Davis, Ken Mackie, Daniel J Morgan
We recently characterized S426A/S430A mutant mice expressing a desensitization-resistant form of the CB1 receptor. These mice display an enhanced response to endocannabinoids and ∆9-THC. In this study, S426A/S430A mutants were used as a novel model to test whether ethanol consumption, morphine dependence, and reward for these drugs are potentiated in mice with a "hyper-sensitive" form of CB1. Using an unlimited-access, two-bottle choice, voluntary drinking paradigm, S426A/S430A mutants exhibit modestly increased intake and preference for low (6%) but not higher concentrations of ethanol...
2017: PloS One
https://www.readbyqxmd.com/read/28382615/a-case-of-multiple-system-atrophy-with-preexisting-alzheimer-s-disease-and-predating-the-hot-cross-bun-sign
#14
Chi-Wei Lin, Chi-Yu Tseng, Chung-Ping Lo, Min-Chien Tu
PURPOSE: Synucleinopathy, tauopathy and amyloidopathy were classified as distinct clinical and pathological entities in traditional classification systems, and their interactions have been studied on neuropathology and molecular genetics recently. CASE REPORT: In this report, we present a 69-year-old male patient who had been diagnosed with probable Alzheimer's disease (AD) dementia due to progressive forgetfulness in February 2013. His Mini- Mental State Examination score was 21/30, and his Cognitive Abilities Screening Instrument score was 78/100, resulted from profound deficits in recent memory and abstract thinking domains...
December 15, 2016: Acta Neurologica Taiwanica
https://www.readbyqxmd.com/read/28335042/acute-sensory-neuronopathy-following-enterovirus-infection-in-a-3-year-old-girl
#15
Chih-Chin Chiu, Chen-Ya Yang, Tsui-Fen Yang, Kon-Ping Lin, Shou-Hsien Huang, Jia-Chi Wang
Acute sensory neuronopathy (SNN) is a rapidly developing peripheral nervous system disease that primarily affects sensory neurons in the dorsal root ganglion or trigeminal ganglion, leading to the impairment of sensory axons. SNN is notably uncommon in childhood; only three cases of childhood or adolescent SNN have been reported to date. Moreover, SSN has never been reported in association with enterovirus infection. Here, we report the case of a 3-year-old girl who was initially diagnosed with enterovirus infection based on the presentation of fevers, rashes on all extremities, and ulceration over the posterior pharynx...
March 23, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28322177/prevalence-estimate-of-cerebral-palsy-in-northern-alberta-births-2008-2010
#16
Charlene M T Robertson, M Florencia Ricci, Kathleen O'Grady, Maryam Oskoui, Helly Goez, Jerome Y Yager, John C Andersen
OBJECTIVES: The objectives of this study were to determine prevalence estimates of cerebral palsy (CP) among 5-year-old children in northern Alberta; to provide congenital, gestational age- and birth weight-specific, and postneonatal CP rates; and to describe motor subtypes and function. METHODS: This population-based prevalence estimate study, part of the Canadian Cerebral Palsy Registry, reports confirmed CP diagnoses at age 5 years made by pediatric rehabilitation and child neurology specialists...
March 21, 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/28320181/ataxic-form-of-autosomal-recessive-pex10-related-peroxisome-biogenesis-disorders-with-a-novel-compound-heterozygous-gene-mutation-and-characteristic-clinical-phenotype
#17
Toru Yamashita, Jun Mitsui, Nobuyuki Shimozawa, Shigeo Takashima, Hiroshi Umemura, Kota Sato, Mami Takemoto, Nozomi Hishikawa, Yasuyuki Ohta, Takashi Matsukawa, Hiroyuki Ishiura, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Shoji Tsuji, Koji Abe
Peroxisome biogenesis factor 10 (PEX10) is involved in the import of peroxisomal matrix proteins, and the mutation of this gene causes 3 subtypes of peroxisome biogenesis disorders, namely Zellweger syndrome (severe), neonatal adrenoleukodystrophy (moderate) and an ataxic form (mild). Here, we report 3 siblings of the ataxic form with cerebellar ataxia, mild mental retardation, and 3 additional characteristic features: mydriasis, hyperreflexia and involuntary head movement. All 3 siblings are compound heterozygous for a previously reported mutation, c...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28318734/effects-of-acetone-cyanohydrin-a-derivative-of-cassava-on-motor-activity-and-kidney-and-liver-function-in-wistar-rats
#18
E Rivadeneyra-Domínguez, C J Rosas-Jarquín, A Vázquez-Luna, R Díaz-Sobac, J F Rodríguez-Landa
INTRODUCTION: Acetone cyanohydrin (ACH) is a toxic substance present in cassava roots (Manihot esculenta Crantz) which results from enzymatic hydrolysis of linamarin. Long-term consumption is associated with 2 neurological disorders: konzo and tropical ataxic neuropathy. Previous studies have evaluated behavioural alterations linked to ACH consumption, but the toxic effects of this substance on physiological processes remain unknown. METHOD: 32 male Wistar rats were assigned to 4 experimental groups (n=8 per group): a vehicle group (0...
March 16, 2017: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/28293314/clinical-spectrum-of-cerebral-palsy-and-associated-disability-in-south-egypt-a-local-survey-study
#19
Osama Abas, Faten Abdelaziem, Ayman Kilany
BACKGROUND: Cerebral palsy is the most common cause of motor disability in children with a prevalence of 2-10/1,000 live births in the developing areas. AIM: The epidemiology, clinical picture, and associated comorbidities in CP have been extensively studied in high-resource countries, but in low-resource areas, including Africa, those studies are still lacking. METHODS: Cerebral palsy cases were prospectively recruited from every physiotherapy centre in Bani-Mazar city, Egypt, in a cross-sectional study from May 2015 to November 2015...
March 15, 2017: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28265153/comparison-of-differences-in-respiratory-function-and-pressure-as-a-predominant-abnormal-movement-of-children-with-cerebral-palsy
#20
Hae-Yeon Kwon
[Purpose] The purpose of this study was to determine differences in respiratory function and pressure among three groups of children with cerebral palsy as a predominant abnormal movement which included spastic type, dyskinetic type, and ataxic type. [Subjects and Methods] Forty-three children with cerebral palsy of 5-13 years of age in I-III levels according to the Gross Motor Function Classification System, the study subjects were divided by stratified random sampling into three groups of spastic type, dyskinetic type, and ataxic type...
February 2017: Journal of Physical Therapy Science
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