Novel variants in the SACS gene in a first Central-Eastern European family with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
Objective: To present genetics, clinical description and natural history of the disease in four members of a Polish family with novel variants in the SACS…Clinical benefits of vestibular rehabilitation in neurodegenerative diseases
Objective: To assess the benefits of vestibular rehabilitation using virtual reality technology through pre and post application of the Dizziness Handicap Inventory (DHI) and the…Symptomatic palatal and respiratory tremor with ataxia following fourth ventricle epidermoid cyst removal
Objective: Present rare cause of symptomatic palatal tremor and ataxia after fourth ventricle cyst removal with unusual respiratory muscle involvement. Background: Symptomatic palatal tremor (SPT)…Autosomal recessive ataxia due to ANO10 mutations; full and novel phenotypic data in an Irish pedigree
Objective: We report on a family with ataxia due to mutations in the ANO10 gene to provide comprehensive clinical and cognitive data on the associated…The scale for assessment and rating of ataxia in early onset ataxia; always a reliable biomarker?
Objective: To determine the reliability and discriminant validity of the Scale for Assessment and Rating of Ataxia (SARA) in early onset ataxia. Background: Early onset…A largest case series study of spinocerebellar ataxia type 2(SCA2) from India: Do SCA2 clinical subtypes exists?
Objective: To study the extent of phenotypic variability in SCA2 families of Indian origin and to identify factors associated with it. Background: SCA2 is a…Olfaction analysis in spinocerebellar ataxia type 10 and type 3 comparing with healthy controls and PD
Objective: To Analyse olfaction in spinocerebellar ataxia type 10 and type 3. Background: The main clinical manifestations of spinocerebellar ataxias (SCA) result from the involvement…Prolonged cerebellar syndrome after Legionnaire’s disease
Objective: Present rare case of ataxia and tremor one year following Legionella infection with CNS symptoms. Background: Transient, acute neurological syndromes may occur in patients…Evaluation of parkinsonism and striatal dopamine transporter loss in patients with spinocerebellar ataxia type 6
Objective: To study whether spinocerebellar ataxia type 6 (SCA6) patients have parkinsonism and striatal dopamine transporter (DAT) loss compared to gender- and age-matched healthy controls.…A unique phenotype associated with anti-GAD antibodies
Objective: To describe a case of hemiatiaxia, parkinsonism, and dystonia associated with anti-Glutamic Acid Decarboxylase (GAD) antibodies. Background: GAD antibodies have been implicated in endocrinopathies…
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