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…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…A systematic review of Movement Disorders in COVID-19
Objective: We conducted a systematic review to describe the frequency, clinical profile and outcomes of patients with SARS-CoV-2 associated movement disorders. Background: SARS-CoV-2 is associated…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…
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