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Ataxia

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8 papers 0 to 25 followers
https://www.readbyqxmd.com/read/27826120/mitochondrial-oxidative-phosphorylation-disorders-in-children-phenotypic-genotypic-and-biochemical-correlations-in-85-patients-from-south-india
#1
Kothari Sonam, Parayil Sankaran Bindu, M M Srinivas Bharath, Periyasamy Govindaraj, Narayanappa Gayathri, Hanumanthapura R Arvinda, Shwetha Chiplunkar, Madhu Nagappa, Sanjib Sinha, Nahid Akhtar Khan, Vandana Nunia, Arumugam Paramasivam, Kumarasamy Thangaraj, Arun B Taly
Mitochondrial oxidative phosphorylation (OXPHOS) disorders accounts for a variety of neuromuscular disorders in children. In this study mitochondrial respiratory chain enzymes were assayed in muscle tissue in a large cohort of children with varied neuromuscular presentations from June 2011 to December 2013. The biochemical enzyme deficiencies were correlated with the phenotypes, magnetic resonance imaging, histopathology and genetic findings to reach a final diagnosis. There were 85 children (mean age: 6.9±4...
November 5, 2016: Mitochondrion
https://www.readbyqxmd.com/read/27789117/acute-ataxia-in-children-a-review-of-the-differential-diagnosis-and-evaluation-in-the-emergency-department
#2
REVIEW
Mauro Caffarelli, Amir A Kimia, Alcy R Torres
Acute ataxia in a pediatric patient poses a diagnostic dilemma for any physician. While the most common etiologies are benign, occasional individuals require urgent intervention. Children with stroke, toxic ingestion, infection, and neuro-inflammatory disorders frequently exhibit ataxia as an essential-if not the only-presenting feature. The available retrospective research utilize inconsistent definitions of acute ataxia, precluding the ability to pool data from these studies. No prospective data exist that report on patients presenting to the emergency department with ataxia...
December 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27660039/recurrent-hemorrhagic-venous-infarctions-caused-by-thrombosis-of-a-pontine-developmental-venous-anomaly-and-protein-s-mutation
#3
Yuri Nakamura, Kei-Ichiro Takase, Takuya Matsushita, Satoshi Yoshimura, Ryo Yamasaki, Hiroyuki Murai, Kazufumi Kikuchi, Jun-Ichi Kira
A 34-year-old man presented with an acute onset of upbeat nystagmus, slurred speech, and limb and truncal ataxias. The patient had a history of limb ataxia and gait disturbance previously treated as brainstem encephalitis with corticosteroids 3 years previously. Brain magnetic resonance imaging showed pontine developmental venous anomaly (DVA) and hemorrhagic infarction within the drainage territory of the DVA. Three months later, the patient exhibited recurrent limb ataxia, double vision, and numbness of the left side of the body...
September 19, 2016: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/27696642/partially-methylated-alleles-microdeletion-and-tissue-mosaicism-in-a-fragile-x-male-with-tremor-and-ataxia-at-30-years-of-age-a-case-report
#4
Yun Tae Hwang, Solange Mabel Aliaga, Marta Arpone, David Francis, Xin Li, Belinda Chong, Howard Robert Slater, Carolyn Rogers, Lesley Bretherton, Matthew Hunter, Robert Heard, David Eugeny Godler
CGG repeat expansion >200 within FMR1, termed full mutation (FM), has been associated with promoter methylation, consequent silencing of gene expression and fragile X syndrome (FXS)-a common cause of intellectual disability and co-morbid autism. Unmethylated premutation (55-199 repeats) and FM alleles have been associated with fragile X related tremor/ataxia syndrome (FXTAS), a late onset neurodegenerative disorder. Here we present a 33-year-old male with FXS, with white matter changes and progressive deterioration in gait with cerebellar signs consistent with probable FXTAS; there was no evidence of any other cerebellar pathology...
October 1, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27582036/unverricht-lundborg-disease
#5
Arielle Crespel, Edoardo Ferlazzo, Silvana Franceschetti, Pierre Genton, Riadh Gouider, Reetta Kälviäinen, Miikka Korja, Maria K Lehtinen, Esa Mervaala, Michele Simonato, Annika Vaarmann
We first review the clinical presentation and current therapeutic approaches available for treating Unverricht-Lundborg disease (ULD), a progressive myoclonus epilepsy. Next, we describe the identification of disease causing mutations in the gene encoding cystatin B (CSTB). A Cstb-deficient mouse model, which recapitulates the key features of ULD including myoclonic seizures, ataxia, and neuronal loss, was generated to shed light on the mechanisms contributing to disease pathophysiology. Studies with this model have elucidated the diverse biological roles for Cstb from functioning as a protease inhibitor, to regulating glial activation, oxidative stress, serotonergic neurotransmission, and hyperexcitability...
September 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27531146/gait-disturbance-as-the-presenting-symptom-in-young-children-with-anti-nmda-receptor-encephalitis
#6
Anusha K Yeshokumar, Lisa R Sun, Jessica L Klein, Kristin W Baranano, Carlos A Pardo
This case series demonstrates a novel clinical phenotype of gait disturbance as an initial symptom in children <3 years old with anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis. Anti-NMDAR encephalitis is one of the most common causes of encephalitis in children, more common than any of the viral encephalitides and the second most common autoimmune cause after acute disseminated encephalomyelitis. Anti-NMDAR encephalitis in children often presents with disrupted speech and sleep patterns followed by progression to motor dysfunction, dyskinesias, and seizures...
September 2016: Pediatrics
https://www.readbyqxmd.com/read/27531668/atxn2-as-a-gene-antisense-to-atxn2-is-associated-with-spinocerebellar-ataxia-type-2-and-amyotrophic-lateral-sclerosis
#7
Pan P Li, Xin Sun, Guangbin Xia, Nicolas Arbez, Sharan Paul, Shanshan Zhu, H Benjamin Peng, Christopher A Ross, Arnulf H Koeppen, Russell L Margolis, Stefan M Pulst, Tetsuo Ashizawa, Dobrila D Rudnicki
OBJECTIVE: Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disease caused by a CAG repeat expansion in the gene ataxin-2 (ATXN2). ATXN2 intermediate-length CAG expansions were identified as a risk factor for amyotrophic lateral sclerosis (ALS). The ATXN2 CAG repeat is translated into polyglutamine, and SCA2 pathogenesis has been thought to derive from ATXN2 protein containing an expanded polyglutamine tract. However, recent evidence of bidirectional transcription at multiple CAG/CTG disease loci has led us to test whether additional mechanisms of pathogenesis may contribute to SCA2...
October 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27477579/an-elderly-man-with-progressive-ataxia-and-palatal-tremor-presenting-with-dizziness-and-oculopalatal-tremor
#8
Yuka Tsukahara, Keisuke Suzuki, Norito Kokubun, Toshiki Nakamura, Hidehiro Takekawa, Koichi Hirata
A 74-year-old man was referred to our department for dizziness and progressive unsteady gait over 6 years. His family history was unremarkable. Neurological examination showed dysarthria, saccadic eye movement, palatal tremor (1.7 Hz)-synchronous with rotational ocular movement, and truncal ataxia. T2-weighted magnetic resonance imaging (MRI) of the brain revealed hyperintense and hypertrophic bilateral inferior olivary nuclei at the medulla and mild cerebellar atrophy. On the basis of neurological findings of oculopalatal tremor and cerebellar ataxia with brain MRI findings, the diagnosis of progressive ataxia and palatal tremor (PAPT) was made...
August 31, 2016: Rinshō Shinkeigaku, Clinical Neurology
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