Adult onset Niemann-Pick type C: 24 month follow-up on miglustat
Objective: To present a rare case of adult onset NPC patient and pointing out varying response of her distinct symptoms on long term follow up…Burden of movement disorders in Cameroon: In/out patient population study
Objective: To create a registry and surveillance of neurological disease from health care districts in Cameroon from 2012 to 2014. Background: Due to rapid demographic…Predominant motor neuron involvement in autosomal recessive SYNE1 ataxia
Objective: We here report on a novel SYNE1 mutation in an Austrian family extending the classical clinical phenotype in SYNE1 ataxia. Background: SYNE1 codes for…PARK-OMM – An osteopathic manipulative medicine protocol to improve motor function and balance in Parkinson’s disease
Objective: To evaluate the effects of a pre-defined Osteopathic Manipulative Medicine (OMM) treatment protocol (PARK-OMM) for 6 weeks compared to a 6-week controlled counseling period…Topiramate responsive adult-onset opsoclonus myoclonus ataxia syndrome
Objective: Opsoclonus myoclonus ataxia (OMA) is a rare neurological syndrome characterized with with autoimmune background. However the exact pathophysiology is not clear. Most common underlying…Novel variants in the SACS gene in a first Central-Eastern European family with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
Objective: To present genetics, clinical description and natural history of the disease in four members of a Polish family with novel variants in the SACS…Clinical benefits of vestibular rehabilitation in neurodegenerative diseases
Objective: To assess the benefits of vestibular rehabilitation using virtual reality technology through pre and post application of the Dizziness Handicap Inventory (DHI) and the…Symptomatic palatal and respiratory tremor with ataxia following fourth ventricle epidermoid cyst removal
Objective: Present rare cause of symptomatic palatal tremor and ataxia after fourth ventricle cyst removal with unusual respiratory muscle involvement. Background: Symptomatic palatal tremor (SPT)…Autosomal recessive ataxia due to ANO10 mutations; full and novel phenotypic data in an Irish pedigree
Objective: We report on a family with ataxia due to mutations in the ANO10 gene to provide comprehensive clinical and cognitive data on the associated…The scale for assessment and rating of ataxia in early onset ataxia; always a reliable biomarker?
Objective: To determine the reliability and discriminant validity of the Scale for Assessment and Rating of Ataxia (SARA) in early onset ataxia. Background: Early onset…