Daughter’s ataxia reveals father’s genetic Parkinsonism. The first reported case of Spinocerebellar ataxia -15 presenting with levodopa responsive hemi Parkinsonism
Objective: A 38 year old Australian florist of Anglo-Celtic origin described two years of difficulty using his right hand with associated sensory disturbance attributed initially…Familial SCA2-parkinsonism presented as intractable oromandibular dystonia
Objective: We report a patient of spinocerebellar ataxia type 2(SCA2)-parkinsonism family who developed oromandibular dystonia as the chief presentation. Background: We previously described a Korean…Urodynamic findings in a cohort of patients with SCA7 reporting lower urinary tract symptoms
Objective: To evaluate the urodynamic findings in a cohort of patients with Spinocerebellar Ataxia Type 7 (SCA7) reporting lower urinary tract symptoms. Background: SCA7 is…Changes in balance and gait after a single session of combined cerebellum and primary motor cortex transcranial direct current stimulation (tDCS) in a person with SCA1
Objective: To examine whether a single session of cerebellum and motor cortex (tDCS) stimulation associated with specific training of balance skills could change balance and…Multi-tiered Diagnostic Approaches Reveal a High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias: A Retrospective Review of an Australian Cohort
Objective: A retrospective review of the genetic spectrum in an Australian cohort of hereditary cerebellar ataxia (HCA), as well as evaluating HCA’s testing modalities at…Clinico-genetic correlation in Indian Spinocerebellar ataxia Type 1 (SCA1) patients
Objective: To conduct a clinical and genetic analysis of SCA 1 in Indian population. Background: Spinocerebellar ataxia type1 (SCA1) is a neurodegenerative disease caused by…Movement Disorders and Clinical Progression in Spinocerebellar Ataxias
Objective: To study the prevalence and influence of movement disorder signs in SCAs. Background: Movement disorders are common features in spinocerebellar ataxias (SCAs) but their…Living with Ataxia in Ireland 2016–a nationwide survey of 130 Irish patients with inherited Ataxia
Objective: To collect real-life data from a large cohort of patients with inherited ataxia in Ireland, with special attention to the individual ataxia-related healthcare resources…Corticospinal tract dysfunction precede the cerebellar syndrome in spinocerebellar ataxia 2
Objective: To evaluate if corticospinal tract (CST) dysfunction appears before the cerebellar syndrome in SCA2 Background: Studies of corticospinal tract (CST) function in prodromal spinocerebellar…Allelic CACNA1A disorders: a retrospective cohort analysis on clinical course and overlapping features
Objective: To (1) retrospectively study emerging clinical symptoms and disease course in a cohort of patients with genetically proven CACNA1A mutations and (2) to define…
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