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…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…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:…A Case Report of Spinocerebellar ataxia 13 with Parkinsonism
Objective: To present a Spinocerebellar Ataxia (SCA) 13 case who presented with parkinsonism with positive DatScan and good response to Levodopa. Background: Spinocerebellar ataxia (SCA)…Differential Value of Brain Magnetic Resonance Imaging in MSA-C and SCAs
Objective: Diagnostic value of brain magnetic resonance imaging (MRI) in differentiating multiple system atrophy cerebellar (MSA-C) phenotype and spinocerebellar ataxias (SCAs) was assessed according to…Reconstructing the history of Machado-Joseph disease
Objective: The authors debate if previous descriptions of cerebellar ataxias with autossomal dominant pattern of inheritance, resembling MJD phenotipically, should gain the merit of first…Two novel ANO10 mutations causing adult-onset autosomal recessive spinocerebellar ataxia
Objective: Clinical and genetic characterization of a patient Background: In recent years mutations more than 100 different genes have been shown to underlie spinocerebellar ataxias.…Polysomnographic features of Spinocerebellar Ataxia type 3 – a case report
Objective: To describe, through a case report, the range of abnormal sleep patterns of Spinocerebellar Ataxia type 3 (SCA3). Background: SCA3 is a progressive neurodegenerative…Evolution of ataxia in risk persons for spinocerebellar ataxia (SCA)
Objective: To study the premanifest stage of the most common SCAs. Specifically, we wanted to determine the conversion rate to ataxia in risk persons and…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),…
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