Anti Yo-1 Antibody Syndrome: A Case Study of a Paraneoplastic Syndrome Mimicking Atypical Parkinsonism
Objective: To report the case of a patient with anti Yo-1 antibody syndrome mimicking clinically and radiologically as an atypical parkinsonism. Background: The anti Yo-1…Spinocerebellar Ataxia Type 17 First Reported Case in Northern Mexico
Objective: To report the first documented case of spinocerebellar ataxia type 17 (SCA17) in northern Mexico. Background: SCA17 is an autosomal dominant neurodegenerative disorder caused…Unusual presentation of POLR3A-associated leukodystrophy – two cases reported
Objective: Presentation of two patients with different clinical manifestations of a POLR3A-related leukodystrophy (NM_007055.4) Background: POLR3A related leukodystrophy is an autosomal recessive disease caused by…Clinical characteristics of movement disorders associated with multiple sclerosis patients: A cross sectional preliminary single center results.
Objective: The aim of our study was to observe the clinical characteristics of different movement disorders (MD) in patients with multiple sclerosis (MS). Background: Demyelinating…CAPRIN1 defect: a new severe neurodegenerative disorder with childhood dementia, myoclonus-ataxia, and sensorimotor neuropathy
Objective: To present the case of a patient with a severe neurodegenerative disorder with onset in pediatric age carrying a pathogenic variant in CAPRIN1 gene…Longitudinal Analysis of fragile X-associated tremor/ataxia syndrome Progression: A One-Year Follow-Up of 24 Patients
Objective: Determine the rate of progression of motor signs in fragile X-associated tremor/ataxia syndrome (FXTAS) over a one-year follow-up. Background: Limited information exists regarding the…Clinico-radiological and genetic profile of patients with Ataxia with Oculomotor apraxia type-2 (AOA2)- A case series from India
Objective: To delineate clinical, radiological and genetic profile of patients with ataxia with oculomotor apraxia type-2 (AOA2) in Indian cohort. Background: AOA2 is a relatively…‘If you can’t beat them, join them’: a patient and family perspective on quality of life with North Sea progressive myoclonus epilepsy
Objective: To describe the perspectives of patients and their family on quality of life (QoL) in North Sea- Progressive Myoclonus Epilepsy (NS-PME). Background: NS-PME is…paraneoplastic cerebellar ataxia: a rare cause of late-onset ataxia
Objective: investigate the clinical features, imaging findings and immunological characteristics of Paraneoplastic cerebellar ataxia (PCA) in our cohort. Background: Paraneoplastic cerebellar ataxia (PCA) is a…Spectrum of polysomnographic abnormalities in a cohort of sporadic late onset ataxia patients
Objective: To evaluate the occurrence of rapid eye movement behavioral disorder (RBD) and associated polysomnographic abnormalities in patients of sporadic adult onset ataxia Background: Sporadic…
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