Whole exome sequencing identifies novel variants underlying Ataxia with Oculomotor Apraxia type 1 in Pakistani consanguineous families
Objective: To investigate the underlying pathogenic variants in four consanguineous Pakistani families segregating Ataxia with Oculomotor Apraxia type 1 Background: Ataxia with Oculomotor Apraxia type 1…Giant symptomatic capillary telangiectasia: uncommon cause of cerebellar ataxia
Objective: We present a case of a patient with adult-onset cerebellar ataxia and palatal tremor secondary to an uncommon vascular cause. Background: Capillary telangiectasias (CT)…Leading Therapeutic Molecules Target Transcription Factors Binding to Repressor Region in FXN Gene
Objective: To investigate interactions of transcription factors (TFs) binding to repressor region located upstream to FXN gene with leading therapeutic molecules. Background: Low levels 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…A case of GAD ataxia and stiff leg syndrome
Objective: Stiff person syndrome and cerebellar ataxia are immunological neurological syndromes associated with the presence of glutamic acid decarboxylase (GAD) antibodies. Background: Patients with GAD…Clinical and imaging features of idiopathic cerebellar ataxia with anti-cerebellar antibodies
Objective: The current study sought to determine whether autoimmunity can account for some cases of IDCA. Background: Idiopathic cerebellar ataxia (IDCA) is the clinical-based term…Role of Uric Acid in Friedreich Ataxia neurodegeneration
Objective: Friedreich Ataxia (FRDA) is an inherited recessive disease with reduced frataxin levels. This causes a reduced mitochondrial function and progressive neurodegeneration. The aim of…Gluten-induced ataxia: a misdiagnosed cause of sporadic ataxia. A case report
Objective: to report a case of celiac disease (CD) revealed by an ataxic gait in a young woman. Background: CD is an immune-mediated gastrointestinal disorder…Dystonic tremor and ataxia as presenting symptoms of multiple sclerosis
Objective: Introduction Tremor in multiple sclerosis (MS) has traditionally been thought to be a feature of advanced disease and pathophysiology of MS tremor is known…Myoclonus, Tremor, and Ataxia After COVID-19 Infection
Objective: We report a case of myoclonus, tremor, and ataxia after COVID-19 infection with improvement in myoclonus after treatment with levetiracetam. Background: Neurologic manifestations of…
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