Clinical phenotype and biomarkers in sporadic degenerative ataxia: longitudinal data from the SPORTAX registry
Objective: Our aim was to survey the natural history of sporadic degenerative ataxia and analyze the long-term disease progression. Furthermore, we wanted to examine and…Amyotrophic Lateral Sclerosis with SOD1 mutation presenting with progressive cerebellar ataxia
Objective: To present a rare case of Amyotrophic Lateral Sclerosis (ALS) with cerebellar ataxia onset. Background: ALS is a fatal neurodegenerative disorder known to affect…Phenotype characteristics of ANO10 mutation carries: a case series from Serbia and a systematic review of the literature
Objective: To describe Romani patients with ANO10 mutation diagnosed at a single-center in Serbia and to provide a systematic literature review on ANO10 phenotype and…Hyperintensity in Middle Cerebellar Peduncles, an infrequent and reversible finding in Marchiafava-Bignami Disease.
Objective: We present a case of Marchiafava-Bignami Disease (MBD), where reversible hyperintensity in Middle Cerebellar Peduncle (MCP-sign) is observed. Background: MCP sign is an infrequent…Phenotype-genotype correlation in a case series from South Spain of Hereditary Spastic Paraplegia 7 (SPG7)
Objective: To describe the phenotype and genotype of patients with confirmed diagnosis of SPG7 Background: Coarelli et al described the possible correlation between genotype and…Reliability and Validity of the Greek Translation of the Scale for Assessment and Rating Ataxia in Ataxic Children
Objective: Translation and Cross-cultural adaptation of the Scale for Assessment and Rating Ataxia (SARA) in Greek ataxic pediatric population. Background: Ataxia in the pediatric population…GAD65 antibody neurologic syndrome presenting with hemiparkinsonism
Objective: To describe a novel phenotype of glutamic acid decarboxylase-65 (GAD65) antibody-associated neurological disease in which an older patient initially presented with levodopa-unresponsive hemiparkinsonism and…Two cases of Ataxia Telangiectasia Like Disorder: phenotypic spectrum associated with MRE11 gene
Objective: In this study we show a couple of siblings with a progressive cerebellar ataxia associated with mutation in MRE11A. Our goal is to demonstrate…An uncommon clinical phenotype associated with ANO10 mutation
Objective: To describe a case with a homozygous c.132dupA ANO10 mutation. Background: Autosomal recessive cerebellar ataxia type 3 (ARCA3) is associated to ANO10 mutations. It…Clinical and genetic abnormalities in patients with Friedreich’s ataxia: A genotype-phenotype correlation
Objective: To examine the possibility of molecular finding affecting FRDA phenotype, we studied the clinical features and ascertained the GAA repeat sizes in FRDA patients…
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