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.…Clinical and molecular features of a Chinese family with spinocerebellar ataxia type 6
Objective: To evaluate the clinical manifestation, CAG repeats of abnormal alleles, mitochondrial function and treatment of spinocerebellar ataxia type 6To evaluate the clinical manifestation, CAG…Respiratory Function and Functional Decline in Spinocerebellar Ataxia Type 2
Objective: To evaluate the relationship between the values of Peak Expiratory Flow rate (PEFr), Maximum Inspiratory Pressure (MIP), the presence of respiratory complaints with disease…Prospective study of cognition in SCA2
Objective: Evaluate prospectively cognitive dysfunction in subjects with SCA2 using Mini Mental Examination (MMSE) and Montreal Cognition Assesment (MOCA), looking for correlation between cognitiion and motor…Spinocerebellar ataxias in Southern Brazil: genotypic and phenotypic evaluation of 213 families
Objective: To describe and correlate the genotype and phenotype of patients diagnosed with SCAs. Background: Spinocerebellar Ataxias (SCAs) are neurodegenerative diseases with autosomal dominant inheritance…Need of next generation sequencing technology to de-convolute autosomal recessive cerebellar ataxias in India
Objective: Comparison of two next generation platform to screen ARCA patients in Indian population Background: India is deficient with the molecular screening of the ARCAs.…Hearing Evaluation (Peripheral and Central) in Patients with Sporadic Ataxia
Objective: To describe the audiological and electrophysiological results in patients with sporadic ataxia. Background: Patients with progressive non-familial adult ataxia are classified into a sporadic…Cervical dystonia priori to ataxia in spinocerebellar ataxia type 3 patients
Objective: To report two cases of SCA3 who presented with cervical dystonia as a prominent feature or sole manifestation for many years prior to development…Vestibulo-Ocular Reflex Assessment in Patients with Sporadic Ataxia
Objective: To identify vestibular alterations in patients with sporadic ataxia (SA). Background: Sporadic ataxia (SA) is classified as a neurological condition characterized by adult onset,…Pathophysiologic insights into ataxia and spasticity through structural imaging of a spinocerebellar ataxia type 7 (SCA7) cohort
Objective: Correlate clinical measures of ataxia and spasticity in a SCA7 cohort with the pattern and severity of atrophy of grey matter (GM) and white…
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