WITHDRAWN: Ataxia, Ophthalmoplegia, and Impairment of Consciousness in a 19 Month-old American Boy

The Publisher regrets that this article is an accidental duplication of an article that has already been published, http://dx.doi.org/10.1016/j.spen.2014.04.015. The duplicate article has therefore been withdrawn.The full Elsevier Policy on Article Withdrawal can be found at http://www.elsevier.com/locate/withdrawalpolicy.
Source: Seminars in Pediatric Neurology - Category: Neurology Authors: Source Type: research

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BACKGROUND: B álint's syndrome is characterized by the triad of ocular apraxia, dorsal simultanagnosia and optic ataxia. It most commonly occurs following bilateral parieto-occipital brain injury, for which several aetiologies have been described. CASE DES...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Economics of Injury and Safety, PTSD, Injury Outcomes Source Type: news
We present the case of a 68 year-old man who was initially attended in emergency department with sudden onset diplopia. Neurological exploration revealed WEBINO and gait ataxia. Relevant medical history included liver transplantation and subsequent tacrolimus prescription. Complementary exams revealed ischemic lesion in mesencephalic tegmentum, involving medial longitudinal fasciculus and pretectal area. WEBINO syndrome is unfrequent. Among its etiologies, ischemic and demyelinating are the most frequent. In our case, iatrogenic etiology was also considered. Clinical recognition of this syndrome is required to perform adeq...
Source: Archivos de la Sociedad Espanola de Oftalmologia - Category: Opthalmology Tags: Arch Soc Esp Oftalmol Source Type: research
ConclusionGrade 3 CIPN, as assessed with TNSc ®, and evidence of sensory ataxia with a positive Romberg sign were strongly associated with an increased risk of falls. Although our results need further validation, the TNSc® scale appears to be a practical and easy tool for identifying patients at higher risk of falling.
Source: Supportive Care in Cancer - Category: Cancer & Oncology Source Type: research
This article reports a patient with acquired hepatocerebral degeneration that presented with progressive cerebellar ataxia, cerebellar atrophy, and middle cerebellar peduncle lesions. He had a marked improvement after liver transplantation. We reinforce that hepatic failure should be investigated in patients with pure cerebellar syndrome, resembling neurodegenerative diseases.
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Tags: Correspondence Source Type: research
ConclusionsPaucity of descriptions in the literature, and withdrawal from medical care complicate the acquisition of follow-up data on the natural history of long-term survivors. Irrespective of these limitations, we have obtained impression of the many problems that these patients face when surviving beyond 30  years of age. Awareness of these problems is needed to guide follow-up, counselling, and (palliative) care; decisions about life-prolonging treatments should be well considered.
Source: Journal of Neurology - Category: Neurology Source Type: research
LB, PanAmerican Hereditary Ataxia Network Abstract Spinocerebellar ataxias (SCAs) comprise a heterogeneous group of autosomal dominant disorders. The relative frequency of the different SCA subtypes varies broadly among different geographical and ethnic groups as result of genetic drifts. This review aims to provide an update regarding SCA founders in the American continents and the Caribbean as well as to discuss characteristics of these populations. Clusters of SCAs were detected in Eastern regions of Cuba for SCA2, in South Brazil for SCA3/MJD, and in Southeast regions of Mexico for SCA7. Prevalence rates were...
Source: Cerebellum - Category: Neuroscience Authors: Tags: Cerebellum Source Type: research
AbstractSpinocerebellar ataxias (SCAs) comprise a heterogeneous group of autosomal dominant disorders. The relative frequency of the different SCA subtypes varies broadly among different geographical and ethnic groups as result of genetic drifts. This review aims to provide an update regarding SCA founders in the American continents and the Caribbean as well as to discuss characteristics of these populations. Clusters of SCAs were detected in Eastern regions of Cuba for SCA2, in South Brazil for SCA3/MJD, and in Southeast regions of Mexico for SCA7. Prevalence rates were obtained and reached 154 (municipality of B á...
Source: The Cerebellum - Category: Neurology Source Type: research
Publication date: 18 February 2020Source: Cell Reports, Volume 30, Issue 7Author(s): Mu-Yan Cai, Connor E. Dunn, Wenxu Chen, Bose S. Kochupurakkal, Huy Nguyen, Lisa A. Moreau, Geoffrey I. Shapiro, Kalindi Parmar, David Kozono, Alan D. D’AndreaSummaryCells deficient in ataxia telangiectasia mutated (ATM) are hypersensitive to ionizing radiation and other anti-cancer agents that induce double-strand DNA breaks. ATM inhibitors may therefore sensitize cancer cells to these agents. Some cancers may also have underlying genetic defects predisposing them to an ATM inhibitor monotherapy response. We have conducted a genome-w...
Source: Cell Reports - Category: Cytology Source Type: research
Publication date: 18 February 2020Source: Cell Reports, Volume 30, Issue 7Author(s): Siddharth De, Callum Campbell, Ashok R. Venkitaraman, Alessandro EspositoSummaryCell-autonomous changes in p53 expression govern the duration and outcome of cell-cycle arrest at the G2 checkpoint for DNA damage. Here, we report that mitogen-activated protein kinase (MAPK) signaling integrates extracellular cues with p53 dynamics to determine cell fate at the G2 checkpoint. Optogenetic tools and quantitative cell biochemistry reveal transient oscillations in MAPK activity dependent on ataxia-telangiectasia-mutated kinase after DNA damage. M...
Source: Cell Reports - Category: Cytology Source Type: research
Abstract Spinocerebellar ataxia type 3, also known as Machado-Joseph disease (SCA3/MJD), is the most common type of autosomal dominant cerebellar ataxias. Few studies focused on the changes of the whole mitochondrial genomes of SCA3/MJD patients and its relationship with the pathogenesis of SCA3/MJD. We adapted one-step long-range PCR to amplify the entire mitochondrial DNA (mtDNA) followed by next-generation sequencing technology to investigate the information of whole mitochondrial genomes in 38 SCA3/MJD patients and 31 healthy controls from mainland China. Compared to the healthy control group, the mitochondria...
Source: Gene - Category: Genetics & Stem Cells Authors: Tags: Gene Source Type: research
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