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…Tullio phenomenon in CANVAS Syndrome
Objective: To describe Tullio phenomenon in a patient with CANVAS (cerebellar ataxia with neuropathy and vestibular areflexia syndrome). Background: CANVAS is a progressive ataxia syndrome…Two Different Clinical Presentations in SYNE1 Ataxia in Turkey
Objective: SYNE1 (Spectrin repeat-containing nuclear envelope protein 1) gene mutation, first diagnosed in French Canadians in 2007, is now reported from many regions around the…Clinical and Genetic spectrum of a series of congenital ataxias patients.
Objective: To describe the clinical and molecular findings of a well-defined group of 11 congenital ataxia patients from 12 different families assessed in an adult…Isolated ZIC4 antibody associated paraneoplastic cerebellar degeneration
Objective: Anti-ZIC4 antibodies have recently been associated with paraneoplastic cerebellar degeneration (PCD) and are usually associated with small cell carcinoma lung. However, most of the…Paraneoplastic Cerebellar Ataxia Due To Ovarian Teratoma: A Case Report
Objective: report the case of a young woman who presented with rapidly progressive ataxia caused by an ovarian teratoma Background: paraneoplastic cerebellar degeneration (PCD) is…Diagnostic yield for point mutation related SCAs through exome sequencing for undetermined ataxias
Objective: To describe the diagnostic yield of whole exome sequencing (WES) to identify autosomal dominant spinocerebellar ataxias (SCAs) caused by point mutations. Background: There are…
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