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

A 19-month old white Pennsylvanian boy, with an unremarkable past-medical history, presented to our hospital with a 3 week history of non-bloody, non-bilious emesis up to five times a day and non-bloody diarrhea. Ten days prior to admission his gait became progressively unsteady until he finally refused to walk. One day prior to admission he developed difficulty moving his eyes. The patient was hypoactive. History, physical and neurological examination, blood and cerebrospinal (CSF) fluid studies and neuroimaging studies ruled out the most frequent causes of acute ataxia (Table 1).
Source: Seminars in Pediatric Neurology - Category: Neurology Authors: Source Type: research

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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
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
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
In conclusion, a substantial proportion of TNBC respond to irinotecan. BRCAness, high SLFN11 expression, and RB1 loss are highly predictive of response to irinotecan and the clinical indenoisoquinoline TOP1 inhibitors.
Source: Science Translational Medicine - Category: Biomedical Science Authors: Tags: Research Articles Source Type: research
In 2011, a homozygous mutation in GOSR2 (c.430G  > T; p. Gly144Trp) was reported as a novel cause of Progressive Myoclonus Epilepsy (PME) with early-onset ataxia. Interestingly, the ancestors of patients originate from countries bound to the North Sea, hence the condition was termed North Sea PME (NSPME). Until now, only 20 patients have been rep orted in literature. Here, we provide a detailed description of clinical and neurophysiological data of seventeen patients.
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Source Type: research
For a variety of sporadic neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease and amyotrophic lateral sclerosis, it is well-established that ethnicity do affect the disease phenotypes. However, how the ethnicity could contribute to the clinical symptoms and disease progressions in monogenetic disorders, such as spinocerebellar ataxia type 3 (SCA3), remains less studied.
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Source Type: research
This study confirms that administration of innate immune modulators can be used as a strategy to boost host innate immune responses and protect against neurotropic viruses reducing their pathogenic footprint.
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
ConclusionThe occurrence of acute or subacute descending paralysis with involvement of bulbar muscles and respiratory failure can often divert clinicians to a diagnosis of neuromuscular junction disorders (such as botulism or myasthenia gravis), vascular causes like stroke, or electrolyte and metabolic abnormalities. Early identification of Miller Fisher syndrome with appropriate testing is essential to prompt treatment and prevention of further, potentially fatal, deterioration.
Source: Journal of Medical Case Reports - Category: General Medicine Source Type: research
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