Diagnostic challenges with novel SCA variants: A case of STUB1 mutation
Objective: We present a case of SCA48 found on multi-gene sequencing panel [MGSP] after negative dementia workup. Background: Spinocerebellar ataxia [SCA] is a genotypically &…Volatile solvent abuse and Cerebellar ataxia: A case series
Objective: Delineation of clinical and radiological features of cerebellar ataxia from volatile solvent abuse. Background: Volatile solvents like glues, correction fluid, acrylic paints, varnishes, lacquers…Friedreich’s ataxia: A descriptive study of a Tunisian cohort
Objective: we aim to describe the clinical, radiological and electrophysiological features of Friedreich's ataxia (FA) in our population. Background: FA is the most common autosomal…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…Cerebellar ataxia as primary manifestation of HIV: a rare etiological association
Objective: We hereby report a case of subacute onset progressive pancerebellar ataxia, which after a thorough workup, turned out to be a primary manifestation of…
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