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…Survival estimates for Spinocerebellar Ataxia type 2 based on age at onset and CAG repeats length
Objective: To obtain survival estimates for SCA2 patients based on the age at onset and CAG repeats length . Background: Spinocerebellar ataxia type 2 (SCA2)…Ocular Motor Findings in Spinocerebellar Ataxia Type 17
Objective: To delineate the ocular motor findings in spinocerebellar ataxia type 17 (SCA17). Background: Even though the ocular motor findings largely overlap among spinocerebellar ataxia (SCA),…Neurology Residents Versus a Mobile Medical Application in deducing differential diagnoses in Movement Disorders: A multi-center, cross-sectional, observational study
Objective: To test the hypothesis that the differentials generated by the Mobile Medical Application are more clinically relevant and complete to the ones derived by…Dentatorubral-Pallidoluysian Atrophy outside of Asia: A case report of the first Austrian family harbouring this rare mutation
Objective: To report clinical features of the first Austrian family with Dentatorubral-Pallidoluysian Atrophy (DRPLA). Background: DRPLA is a progressive disorder with an autosomal-dominant mode of…A Korean case of Fragile X-associated mild ataxia without tremor
Objective: To report a case of Fragile X-associated tremor/ataxia syndrome (FXTAS) only with mild ataxia. Background: FXTAS is a neurodegenerative disorder caused by the CGG trinucleotide…Opsoclonus-Myoclonus-Ataxia Syndrome – Ljubljana University Children’s Hospital clinical series
Objective: Analysis of number, clinical characteristics and outcome of patients admitted to our department due to OMS in the past 25 years. Background: Opsoclonus-myoclonus-ataxia syndrome…
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