Cardiac involvement in AVED
Objective: Case report Background: Ataxia with vitamin E deficiency (AVED) is an autosomal recessive disorder caused by mutations in the gene encoding the α-tocopherol transport…Think of Gluten Ataxia:A rare but potentially reversible cause of progressive neurological disorder
Objective: To explore an unusual cause of ataxia in a patient with known Celiac disease. Background: Celiac disease is the established but not the only…Epidemiological study of multiple system atrophy: data from HoRC-MSA Project 2014-2019
Objective: To investigate epidemiological aspects of multiple system atrophy (MSA) in Hokkaido, Japan from the data of the Hokkaido Rare-disease Consortium for MSA (HoRC-MSA). Background:…Clinical and genetic heterogeneity in Indian subcontinent patients with Autosomal Dominant Spinocerebellar Ataxia 42
Objective: We describe the case of a family of 2 female siblings of Indian subcontinent with genetically proven SCA 42 Background: Spinocerebellar ataxia (SCA) are…Outcomes After Weighted Lumbosacral Orthosis (LSO) and Exercises in Patients with Progressive Cerebellar Ataxia
Objective: Readers will recognize the weighted lumbosacral orthosis (LSO) as a tool to enhance balance exercises to improve function in persons with progressive cerebellar ataxia.…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…A case of cerebellar ataxia caused by Pembrolizumab for Non-small cell lung cancer
Objective: We reported a case that cerebellar ataxia and decreased accumulation of right cerebellum at SPECT appeared after immunotherapy using immune-checkpoint inhibitor “Pembrolizumab” for Non-small…Gait in Spinocerebellar Ataxia Type12 (SCA-12)
Objective: The aim of our study was to evaluate the spatial and temporal parameters of gait in SCA12 patients and to compare it with healthy…Non-CpG methylation in the FXN gene in patients with Friedreich’s ataxia
Objective: To compare methylation profiles of non-CpG sites in the FXNgene in patients with Friedreich’s ataxia (FA), their heterozygous relatives and a healthy control group. Background: FA is…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.