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…POLR3A-related spastic ataxia: new mutations and a look into the clinical and MRI phenotype
Objective: To report the clinical, molecular and magnetic resonance imaging features of eight patients with POLR3A-realted spastic ataxia. Background: POLR3-related disorders comprise a number of…The distinct pattern of movement disorders in Caspr2 and LGI1 antibody associated autoimmune encephalitis
Objective: The aim of this study was (1) to investigate the prevalence of movement disorders in a large cohort of patients with encephalitis with LGI1…Fixation suppression the easy way – when nothing else matters
Objective: to validate a simple bedside test to objectify the fixation suppression of the vestibulo-ocular reflex (FS-VOR) in patients with cerebellar syndrome Background: The FS-VOR…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…Assessment of RADIAL, a tool for the diagnostic of autosomal recessive cerebellar ataxia: a prospective study
Objective: Our objective was to validate “RADIAL” ( Recessive Ataxias ranking differential DIagnosis Algorithm) for the diagnosis of Autosomal Recessive Cerebellar Ataxia (ARCA). Background: ARCA…Cerebellar Ataxia in Patients with Huntington’s Disease, an underestimated symptom?
Objective: To analyze the prevalence of cerebellar ataxia in patients with Huntington’s Disease (HD), both early and late on HD progression and correlating the degree…Lower urinary tract symptoms and urodynamic findings in SCAs
Objective: Characterization of urinary dysfunctions in SCAs is needed not only for the understanding of SCAs but also for the correct diagnosis in patients with…Effect of Speech therapy in the sleep of patients with Machado-Joseph disease (MJD) or spinocerebellar ataxia type 3 (SCA3)
Objective: The objective of this study was to evaluate, through polysomnography, the effect of myofunctional therapy in patients with spinocerebellar ataxia type 3. Background: SCA3/MJD…A Case Presentation of Wilson’s Disease
Objective: To study clinical presentations of Wilson’s disease. Background: Wilson disease (WD; also known as hepatolenticular degeneration) is an autosomal-recessive disorder caused by mutation in…
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