Genetic, biochemical and clinical findingss in Friedreich’s ataxia patients – relationship with the disease severity
Objective: To investigate the correlation of disease severity in terms of clinical, genetic and molecular parameters in FRDA. Background: : Friedreich ataxia (FRDA) is a…An unusual phenotype of spinocerebellar ataxia type 12
Objective: To describe a case of spinocerebellar ataxia type 12 (SCA-12) with an unusual phenotype. Background: SCA-12 is a rare autosomal dominant cerebellar ataxia which…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…Novel KCND3 mutation associated with paroxysmal motor exacerbations in spinocerebellar ataxia 19
Objective: To investigate a family affected by ataxia and paroxysmal motor exacerbations. Background: Ataxia channelopathies share common traits such as slow progression and variable degree…Amantadine Therapy for Ataxia Management in Patients with Spinocerebellar Ataxia Type 7
Objective: To report the therapeutic effects of amantadine in a patient with Spinocerebellar ataxia type 7 (SCA7) Background: Spinocerebellar ataxia type 7 is a rare…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…A Novel CACNA1A Nonsense Variant [c.6481C>G; (p.Arg2161Gly)] Causing Spino Cerebellar Ataxia Type 6 (SCA6)
Objective: To describe a new missense variant found in a 67 years old woman with progressive ataxia causing a phenotype compatible with SCA 6. Background:…Ataxia and action myoclonus with biallelic mutations in ATP13A2 gene
Objective: Here we report a patient with late-onset ataxia-myoclonus syndrome harboring mutations in the ATP13A2 gene. Background: Mutations in ATP13A2 gene have been causally associated…Clinical features of impaired communication in patients with multiple system atrophy
Objective: This study aimed to clarify the characteristics of communication impairment, its influencing factors, and availability of communication tools in patients with multiple system atrophy…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…
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