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…A comparison of relative displacement by double integration with root mean square in the quantitative evaluation of gait ataxia by triaxial accelerometers
Objective: An appropriate biomarker for spinocerebellar degeneration (SCD) is needed. Background: Previously we reported that the average amplitude of medial-lateral of straight gait gained by…The etiologies of chronic progressive cerebellar ataxia in a Korean population
Objective: The etiologies and frequency of cerebellar ataxias vary among countries. Our primary aim was to assess the frequency of each diagnostic group of cerebellar…Influence of disease progression on the quality of life of individuals with spinocerebellar ataxia type 10
Objective: To evaluate quality of life (QoL) of individuals with Spinocerebellar Ataxia Type 10 (SCA10) and investigate whether there is an association between self-perception and…Nucleotide repeats as genetic risk factors in a Swedish Parkinson’s disease cohort
Objective: To search for abnormal NRE in the following genes: ATXN2, ATXN3, CACNA1A, TBP, c9orf72, PRNP, POLG1A and TOMM40 in a Swedish PD cohort. Background:…Prof. Wadia’s contributions to neurology and SCA2
Objective: To present a review of the seminal contributions of Professor Wadia to neurology, in particular the first description of SCA2. Background: Spinocerebellar ataxia type…Focal dystonia as an early symptom of CACNA1A mutation: case report and literature review.
Objective: We describe two cases, a father-daughter pair, of CACNA1A mutation with task specific dystonia as an early feature. The father otherwise had a phenotype…Deep Brain Stimulation in a case with Parkinsonism and SCA2 mutation: case report highlighting challenges and outcome
Objective: We describe the response to Deep Brain Stimulation (DBS) in a patient with Parkinsonism having significant motor fluctuations and heterozygous Spino Cerebellar Ataxia type…
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