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Condition: Ataxia
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Total 492 results found since Jan 2013.
CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients
Eur J Paediatr Neurol. 2021 May 26;33:75-85. doi: 10.1016/j.ejpn.2021.05.010. Online ahead of print.ABSTRACTCACNA1A pathogenic mutations are involved in various neurological phenotypes including episodic ataxia (EA2), spinocerebellar ataxia (SCA6), and familial hemiplegic migraine (FHM1). Epilepsy is poorly documented. We studied 18 patients (10 males) carrying de novo or inherited CACNA1A mutations, with median age of 2,5 years at epilepsy onset. Eight mutations were novel. Two variants known leading to gain of function (GOF) were found in 5 patients. Five other patients had non-sense variants leading to loss of function ...
Source: European Journal of Paediatric Neurology - June 8, 2021 Category: Neurology Authors: Marie Le Roux Magalie Barth Sophie Gueden Patrick Desbordes de Cepoy Alec Aeby Catheline Vilain Edouard Hirsch Anne de Saint Martin Vincent des Portes Ga ëtan Lesca Audrey Riquet Laurence Chaton Nathalie Villeneuve Laurent Villard Claude Cances Luc Valto Source Type: research
Wernekinck Commissure Syndrome: Sequela of a Caudal Paramedian Midbrain Infarction
Wernekinck commissure syndrome should be considered in the cases of acute bilateral ataxia.
Source: Neurology Clinical Practice - June 7, 2021 Category: Neurology Authors: Savoia, S., Hashemiaghdam, A., Schindler, J., Salardini, A. Tags: Stroke in young adults, MRI, Gait disorders/ataxia, Diplopia (double vision), Infarction Case Source Type: research
Aphasia Induced by Infratentorial Ischemic Stroke: Two Case Reports
Aphasia induced by an infratentorial stroke has rarely been reported, and its mechanism has not been fully identified. We evaluated two individuals who had been admitted to Saiseikai Kumamoto Hospital in Kumamoto, Japan, due to acute ischemic stroke in order to determine whether their aphasia was induced by an infratentorial stroke. The first patient, a 59-year-old man with a history of left parietal embolic stroke with very mild sequelae of anomia, developed Wernicke’s aphasia, nonfluent speech, and right limb ataxia as a result of the stroke. The second patient, a 76-year-old woman with a history of chronic renal failu...
Source: Cognitive and Behavioral Neurology - June 1, 2021 Category: Neurology Tags: Case Reports Source Type: research
Progressive Ataxia and Downbeat Nystagmus in the Adult
A 63-year-old man presented with a history of vomiting, hypertension, dyslipidemia, type 2 diabetes, dilated ischemic cardiomyopathy, alcohol use, and stroke; physical examination found appendicular dysmetria with truncal ataxia and downbeat nystagmus. Brain magnetic resonance imaging revealed a hyperintensity on T2-weighted and fluid-attenuated inversion recovery sequences without reduced diffusion in the cerebellar nodule. What is your diagnosis?
Source: JAMA Neurology - May 17, 2021 Category: Neurology Source Type: research
Integrating visual search, eye movement training and reversing prism exposure in the treatment of Balint-Holmes syndrome: a single case report
Conclusions: We thus provided a proof of principle supporting the use of reversing prism exposure in optic ataxia within an integrated and personalized rehabilitative approach for BHS.PMID:33960916 | DOI:10.1080/10749357.2021.1923319
Source: Topics in Stroke Rehabilitation - May 7, 2021 Category: Neurology Authors: Francesco Panico Angela Arini Pierluigi Cantone Claudio Crisci Luigi Trojano Source Type: research
