Non classified SCA-like presentation of GEMIN5 + GYG-1 mutation. Case report
Objective: To report the first case of a patient with GEMIN5 and GYG-1 genes mutations who presented with features of both SCA and myopathy. Background:…Spontaneous intracranial hypotension presenting with progressive cerebellar ataxia and myelopathy
Objective: To highlight an infrequent, treatable cause of ataxia and myelopathy. Background: Spontaneous intracranial hypotension (SIH) typically presents with postural headache. Occasionally, MRI may show some…Low serum vitamin E in a genetically confirmed Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)
Objective: To report a case of ARSACS associated with low serum vitamin E. Background: Ataxia with vitamin E deficiency (AVED) presentation varies but usually starts…Factors influencing health-related quality of life of patients with spinocerebellar ataxia
Objective: The objective was to demonstrate the progression of HRQoL over time and identify factors affecting SCA patients' HRQoL. Background: Spinocerebellar ataxias (SCA) comprise a…Studies on mitochondrial dysfunction in the peripheral blood mononuclear cells in an ethnic Indian population of SCA 12 patients
Objective: We chose important mitochondrial genes such as ndufs5, tim22, fis1, dnm1l to understand the alterations in mitochondrial function in the peripheral blood mononuclear cells…Late onset cerebellar ataxia in patients treated with VIM DBS
Objective: To highlight the predictors for onset of cerebellar ataxia in patients treated with deep brain stimulation (DBS) of the Thalamic Ventral Intermediate Nucleus (VIM)…Generalized acute myoclonus caused by chikungunya virus encephalitis: case report.
Objective: Our goal is to describe a case of generalized acute myoclonus in a patient with Chikungunya virus (CHIKV) encephalitis. Background: There have been an…Idiopathic Intracranial Hypertension as the presenting symptom in Wilson’s Disease: how is it possible?
Objective: To report a patient with Wilson’s disease (WD) who became symptomatic shortly after presenting Idiopathic Intracranial Hypertension (HII). Background: WD’s pleomorphic clinical phenotype remains…Systemic and intracellular iron starvation response in Friedreich´s Ataxia
Objective: To investigate the hepcidin-ferroportin mediated iron metabolism regulation in Friedreich´s Ataxia (FA). Background: FA is a devastating neurogenetic disorder caused by biallelic GAA expansions…Isolated ZIC-4 antibody associated cerebellar dysfunction triggered by Tuberculosis
Objective: We report a very rare case of isolated ZIC4 associated rapidly progressive cerebellar syndrome occurring in the background of bone marrow tuberculosis. Background: Rapidly…
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