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…Neurological manifestations and genotypes of Gaucher disease type 3: MDSGene systematic review
Objective: To characterize the spectrum of neurological manifestations of Gaucher disease type 3 (GD3) and identify the most common GBA1 variants. Background: Gaucher disease is…Clinical and Genetic Spectrum of Early-Onset Cerebellar Ataxia in India: A Tertiary Care Center Experience
Objective: To characterize the genetic landscape of early-onset cerebellar ataxia excluding repeat expansion disorders. Background: Early-onset cerebellar ataxia (EOCA, age at onset ≤ 20 years) encompasses a diverse group of disorders with significant…A case of ataxia and muscle stiffness in EEF2 gene mutation with associated anti-GAD antibodies
Objective: Here we present a case of ataxia and muscle stiffness in a person with variant EEF2 gene mutation with associated anti-GAD antibodies along with…Spinocerebellar Ataxia Recessive Type 7 (SCAR7) in a Consanguineous Family: A Case Report
Objective: Spinocerebellar ataxia autosomal recessive type 7 (SCAR7) is a rare disorder caused by biallelic pathogenic variants in TPP1. It usually manifests in childhood or…Genetic Ataxias in Argentina
Objective: To determine the occurrence and frequency of genetic ataxias in Argentina. Background: Genetic ataxias comprise hundreds of disorders with significant phenotypic, genetic, and epidemiological…
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