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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/28683416/trunk-lower-limb-coordination-pattern-during-gait-in-patients-with-ataxia
#12
Pietro Caliandro, Chiara Iacovelli, Carmela Conte, Chiara Simbolotti, Paolo M Rossini, Luca Padua, Carlo Casali, Francesco Pierelli, Giuseppe Reale, Mariano Serrao
OBJECTIVE: Although deficit of coordination between the upper and lower body segments might play an important role in impairing gait and stability in ataxic patients, this deficit has not been investigated in subjects with ataxia so far. To evaluate the coordination between trunk and thigh in a sample of patients with ataxia compared with healthy controls and to correlate the coordination measures with the clinical severity. DESIGN: Prospective observational study...
June 27, 2017: Gait & Posture
https://www.readbyqxmd.com/read/28676232/mhc-class-ii-deficiency-report-of-a-novel-mutation-and-special-review
#13
REVIEW
S Farrokhi, M Shabani, Z Aryan, S Zoghi, A Krolo, K Boztug, N Rezaei
The MHC II deficiency is a rare autosomal recessive primary immunodeficiency syndrome with increased susceptibility to respiratory and gastrointestinal infections, failure to thrive and early mortality. This syndrome is caused by mutations in transcription regulators of the MHC II gene and results in development of blind lymphocytes due to the lack of indicatory MHC II molecules. Despite homogeneity of clinical manifestations of patients with MHC II deficiency, the genetic defects underlying this disease are heterogeneous...
July 1, 2017: Allergologia et Immunopathologia
https://www.readbyqxmd.com/read/28670273/types-and-strains-their-essential-role-in-understanding-protein-aggregation-in-neurodegenerative-diseases
#14
REVIEW
Wiebke M Wemheuer, Arne Wrede, Walter J Schulz-Schaeffer
Protein misfolding and aggregation is a key event in diseases like Alzheimer's disease (AD) or Parkinson's disease (PD) and is associated with neurodegeneration. Factors that initiate protein misfolding and the role of protein aggregation in the pathophysiology of disease pose major challenges to the neuroscientific community. Interestingly, although the accumulation of the same misfolded protein, e.g., α-synuclein is detectable in all idiopathic PD patients, the disease spectrum covers a variety of different clinical presentations and disease courses...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/28668775/towards-an-early-clinical-diagnosis-of-sporadic-cjd-vv2-ataxic-type
#15
Simone Baiardi, Anna Magherini, Sabina Capellari, Veronica Redaelli, Anna Ladogana, Marcello Rossi, Fabrizio Tagliavini, Maurizio Pocchiari, Giorgio Giaccone, Piero Parchi
INTRODUCTION: Sporadic Creutzfeldt-Jakob disease (sCJD) includes a broad spectrum of clinical-pathological subtypes, which complicates the clinical differential diagnosis with other rapidly progressive neurological syndromes. AIM: To provide a better characterisation of clinical features and results of diagnostic investigations, especially at an early disease stage, in patients with sCJDVV2, the second most common sCJD subtype. METHODS: We evaluated neurological symptoms/signs, and results of brain diffusion-weighted resonance imaging (DW-MRI), electroencephalographic recordings (EEG) and cerebrospinal fluid (CSF) biomarker studies in 120 patients with a definite (n=93) or probable (n=27) diagnosis of sCJDVV2...
July 1, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28666963/a-novel-kcna1-mutation-in-a-patient-with-paroxysmal-ataxia-myokymia-painful-contractures-and-metabolic-dysfunctions
#16
Paola Imbrici, Concetta Altamura, Francesca Gualandi, Giuseppe Felice Mangiatordi, Marcella Neri, Giovanni De Maria, Alessandra Ferlini, Alessandro Padovani, Maria Cristina D'Adamo, Orazio Nicolotti, Mauro Pessia, Diana Conte, Massimiliano Filosto, Jean-Francois Desaphy
Episodic ataxia type 1 (EA1) is a human dominant neurological syndrome characterized by continuous myokymia, episodic attacks of ataxic gait and spastic contractions of skeletal muscles that can be triggered by emotional stress and fatigue. This rare disease is caused by missense mutations in the KCNA1 gene coding for the neuronal voltage gated potassium channel Kv1.1, which contributes to nerve cell excitability in the cerebellum, hippocampus, cortex and peripheral nervous system. We identified a novel KCNA1 mutation, E283K, in an Italian proband presenting with paroxysmal ataxia and myokymia aggravated by painful contractures and metabolic dysfunctions...
June 28, 2017: Molecular and Cellular Neurosciences
https://www.readbyqxmd.com/read/28658400/high-phenotypic-variability-in-gerstmann-str%C3%A3-ussler-scheinker-disease
#17
Jerusa Smid, Adalberto Studart, Michele Christine Landemberger, Cleiton Fagundes Machado, Paulo Ribeiro Nóbrega, Nathalie Henriques Silva Canedo, Rodrigo Rizek Schultz, Michel Satya Naslavsky, Sérgio Rosemberg, Fernando Kok, Leila Chimelli, Vilma Regina Martins, Ricardo Nitrini
Gerstmann-Sträussler-Scheinker is a genetic prion disease and the most common mutation is p.Pro102Leu. We report clinical, molecular and neuropathological data of seven individuals, belonging to two unrelated Brazilian kindreds, carrying the p.Pro102Leu. Marked differences among patients were observed regarding age at onset, disease duration and clinical presentation. In the first kindred, two patients had rapidly progressive dementia and three exhibited predominantly ataxic phenotypes with variable ages of onset and disease duration...
June 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28638854/autoimmune-episodic-ataxia-in-patients-with-anti-caspr2-antibody-associated-encephalitis
#18
Bastien Joubert, Florent Gobert, Laure Thomas, Margaux Saint-Martin, Virginie Desestret, Philippe Convers, Véronique Rogemond, Géraldine Picard, François Ducray, Dimitri Psimaras, Jean-Christophe Antoine, Jean-Yves Delattre, Jérôme Honnorat
OBJECTIVE: To report paroxysmal episodes of cerebellar ataxia in a patient with anti-contactin-associated protein-like 2 (CASPR2) antibody-related autoimmune encephalitis and to search for similar paroxysmal ataxia in a cohort of patients with anti-CASPR2 antibody-associated autoimmune encephalitis. METHODS: We report a patient with paroxysmal episodes of cerebellar ataxia observed during autoimmune encephalitis with anti-CASPR2 antibodies. In addition, clinical analysis was performed in a retrospective cohort of 37 patients with anti-CASPR2 antibodies to search for transient episodes of ataxia...
July 2017: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/28627859/use-of-dynamic-movement-orthoses-to-improve-gait-stability-and-trunk-control-in-ataxic-patients
#19
Mariano Serrao, Carlo Casali, Alberto Ranavolo, Silvia Mari, Carmela Conte, Giorgia Chini, Luca Leonardi, Gianluca Coppola, Cherubino DI Lorenzo, Mahmoud Harfoush, Luca Padua, Francesco Pierelli
BACKGROUND: Patients with cerebellar ataxia show increased upper body movements, which have an impact on balance and walking. AIM: In this study, we investigated the effect of using dynamic movement orthoses (DMO), designed as elastic suits, on trunk motion and gait parameters. DESIGN: A longitudinal uncontrolled study. SETTING: Rehabilitative outpatient unit. POPULATION: Eleven patients (seven men, four women; mean age of 49...
June 19, 2017: European Journal of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/28566956/intelligence-functioning-and-related-factors-in-children-with-cerebral-palsy
#20
Gözde Türkoğlu, Serhat Türkoğlu, Canan Çelik, Halil Uçan
INTRODUCTION: Cerebral palsy (CP) is the most common significant motor impairment in childhood. CP is defined as a primary disorder of posture and movement; however, intellectual impairment is prevalent in children with CP. The purpose of this study was to examine the intelligence level associated with gross motor function and hand function, type of CP, the presence of comorbid disorders such as epilepsy, and other factors. METHODS: In total, 107 children with CP were included...
March 2017: Noro Psikiyatri Arsivi
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