Movement Disorder Phenotypes and Etiological Associations in Genetic Early-Onset Ataxias: A Pediatric Cohort Study
Objective: To investigate the frequency, clinical spectrum, and etiological correlates of movement disorders (MD) in early-onset ataxias. Background: Early-onset ataxias are rare genetic disorders (1).…Genetic Landscape of Hereditary Ataxia in a Highly Consanguineous Population: A Nationwide Multicenter Study
Objective: To characterize the genetic spectrum and inheritance patterns of hereditary ataxia in a large cohort from Saudi Arabia, a population with a high rate…Clinical and Genetic Characteristics of SACS-Related Ataxia: A Case Series of 13 Patients from a Consanguineous Arab Population
Objective: To describe the clinical and genetic characteristics of patients with SACS-related ataxia in an Arab population. Background: Pathogenic variants in the SACS gene cause…Phenotypic, Genotypic, Imaging and Neuropsychological Profile of Friedreich Ataxia
Objective: 1. To characterise the phenotypic and genotypic spectrum of patients with Friedreich Ataxia2. To describe the imaging findings and to assess the neuropsychological profile…AOA1 Versus AOA2 : A Comparative Study Of A Tunisian Cohort
Objective: The aim of our study is to compare the epidemiological, clinical, paraclinical and follow-up features of AOA1 and AOA2 in order to identify distinctive…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…Friedreich Ataxia Versus Ataxia With Vitamin E Deficiency : A Comparative Study Of Electrophysiological Features
Objective: Our aim is to compare the electrophysiological features of FRDA and AVED in order to identify distinctive characteristics of both diseases. Background: Autosomal recessive…Ataxia Telangiectasia Diagnosis in Lower-Middle-Income Countries: A Case Report
Objective: to describe clinical features and diagnostic tests in a patient with Ataxia Telangiectasia (AT) in Vietnam. Background: AT is a rare hereditary syndrome, the…The Profile of Cerebellar Ataxia in Neurology Patients at National Tertiary Referral Hospital in Indonesia
Objective: This study aimed to portray the profile of Cerebellar Ataxia Background: Cerebellar ataxia refers to incoordination due to dysfunction of the cerebellum. It can…A Novel Mutation of NKX2-1 Gene: A Rare Presentation of Chorea
Objective: NKX2-1-related disorders encompass a spectrum extending from benign hereditary chorea (BHC) to choreoathetosis, hypothyroidism, neonatal respiratory distress. The prevalence of chorea remains undetermined, albeit…
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