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…Ataxia, deafness, aphonia associated with ANNA-1/ /”anti-Hu” and LUZP4 antibodies
Objective: To describe the first case of primary mediastinal seminoma resulting in paraneoplastic syndrome (rhombencephalitis) secondary to two antibodies ANNA-1 and LZUP4. Background: Paraneoplastic neurological…Course of HIV-associated cerebellar ataxia on the background of antiretroviral therapy: clinical cases of 5 patients
Objective: To evaluate the effect of antiretroviral therapy (ART) on the course of HIV-associated cerebellar ataxia. Background: Cerebellar ataxia is a rare manifestation of HIV…Movement disorders in the setting of dengue infection in a rural medical teaching hospital in Gujarat, India
Objective: To determine the frequency and types of movement disorders in patients with dengue. Background: Dengue fever is a common viral infection presenting with fever,…Network localization of limb ataxia
Objective: To identify the neural substrates of limb ataxia caused by stroke lesions. Background: Ataxia is a neurological sign defined by incoordination of voluntary movements.…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…
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