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…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…Covid-19 associated Opsoclonus-Myoclonus Syndrome with encephalopathy
Objective: To investigate whether the encephalopathy associated with the opsioclonus myoclonus syndrome in COVID-19 is likely to be parainfections. Background: Adult onset opsoclonus myoclonus syndrome…Progression of nigro-striatal denervation in cerebellar Multiple System Atrophy: a prospective study
Objective: To study the progression of nigro-striatal denervation and evaluate the capacity for [123I]-FP-CIT-SPECT and parkinsonian signs to differentiate MSA-C from idiopathic late-onset cerebellar ataxia…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…
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