Phenotypical Study of Progressive Myoclonic Epilepsy in Eastern Algeria
Objective: We aim to analyze phenotypical features of individuals from eastern Algeria having a PME phenotype followed in our center (Dr Benbadis University Hospital). Background:…Expanding the Phenotypic Spectrum of CACNA1A Variants: A Single-Center Experience
Objective: This study aims to describe pediatric patients with CACNA1A variants, detailing the clinical phenotype, with emphasis on the movement phenomenologies, genetic variants, electrophysiological and…Spinocerebellar Ataxia Type 17 First Reported Case in Northern Mexico
Objective: To report the first documented case of spinocerebellar ataxia type 17 (SCA17) in northern Mexico. Background: SCA17 is an autosomal dominant neurodegenerative disorder caused…Action-Induced Dystonic Opisthotonus as an Atypical Presentation in Ataxia Telangiectasia
Objective: We present a rare case of Ataxia-telangiectasia (AT) characterized by intermittent action-induced dystonic opisthotonus causing frequent vomiting after meals intake [figure1]. Background: AT is…The Phenotypic Spectrum of ATP1A3-Related Disorders: A Brazilian Cohort
Objective: To describe a case series of patients with ATP1A3 variants, analyzing their phenotypic presentation and genetic characteristics in Brazil. Background: ATP1A3-related disorders exhibit a complex…Adult-onset ataxia with oculomotor apraxia type 4 with severe hypoalbuminemia, generalized edema and obesity
Objective: To report a 45-years-old Swedish man born to non-consanguineous parents affected by an adult-onset syndrome that included insidious pain at onset, hypoalbuminemia, edema, severe…CAPOS Phenotypic Spectrum: CAPOS, CAPOS+ and CAPOS- within the p.Glu831Lys Variant of the ATP1A3 gene. Case Report and Literature Review.
Objective: To describe and compare the clinical phenotype and frequency of symptom presentation of p.Glu831Lys variant associated syndrome within the ATP1A3 gene, adding the first…Antisense Oligonucleotide Treatment in Ataxia-Telangiectasia
Objective: Describe results of an antisense oligonucleotide (ASO) treatment trial in a patient with ataxia-telangiectasia (AT). Background: AT is a neurodegenerative, incurable disease of children…The Unlikely Treatable A Case of Ataxia
Objective: To present the first reported Colombian case in a patient presenting COQ8A-ataxia with bilateral palpebral ptosis, who had a favorable response to CoQ10 supplementation…Genetic Profile of Cerebellar Ataxias in Patients from a Reference Center in Brazil
Objective: To describe the genetic profile of patients with cerebellar ataxias followed in a neurogenetics reference center in Brazil Background: Cerebellar ataxias comprise a heterogeneous…
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