A Case Presentation of Wilson’s Disease
Objective: To study clinical presentations of Wilson’s disease. Background: Wilson disease (WD; also known as hepatolenticular degeneration) is an autosomal-recessive disorder caused by mutation in…The progression rate of sporadic adult-onset cerebellar ataxia : 1-year follow up study
Objective: To assess progression rate of the sporadic adult-onset ataxia (SAOA) and usefulness of well-known evaluation tools. Background: The sporadic adult-onset ataxia (SAOA) is a…Neurological complications secondary to metronidazole: Case Report
Objective: Present and discuss a case report showing neurotoxicity peripheral and central nervous system–associated with metronidazole use. Background: Due to the extensive clinical use of…Survival estimates for Spinocerebellar Ataxia type 2 based on age at onset and CAG repeats length
Objective: To obtain survival estimates for SCA2 patients based on the age at onset and CAG repeats length . Background: Spinocerebellar ataxia type 2 (SCA2)…Ocular Motor Findings in Spinocerebellar Ataxia Type 17
Objective: To delineate the ocular motor findings in spinocerebellar ataxia type 17 (SCA17). Background: Even though the ocular motor findings largely overlap among spinocerebellar ataxia (SCA),…Neurology Residents Versus a Mobile Medical Application in deducing differential diagnoses in Movement Disorders: A multi-center, cross-sectional, observational study
Objective: To test the hypothesis that the differentials generated by the Mobile Medical Application are more clinically relevant and complete to the ones derived by…Dentatorubral-Pallidoluysian Atrophy outside of Asia: A case report of the first Austrian family harbouring this rare mutation
Objective: To report clinical features of the first Austrian family with Dentatorubral-Pallidoluysian Atrophy (DRPLA). Background: DRPLA is a progressive disorder with an autosomal-dominant mode of…A Korean case of Fragile X-associated mild ataxia without tremor
Objective: To report a case of Fragile X-associated tremor/ataxia syndrome (FXTAS) only with mild ataxia. Background: FXTAS is a neurodegenerative disorder caused by the CGG trinucleotide…Opsoclonus-Myoclonus-Ataxia Syndrome – Ljubljana University Children’s Hospital clinical series
Objective: Analysis of number, clinical characteristics and outcome of patients admitted to our department due to OMS in the past 25 years. Background: Opsoclonus-myoclonus-ataxia syndrome…Cerebellar ataxia and cutaneous lesions: a clinical case
Objective: Highlight the complex differential diagnosis of ataxia in a patient with cutaneous lesions. Background: Cerebellar ataxias may accompany neurocutaneous syndromes. XP is a rare…
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