The role of Anti-Ribosomal P antibody in Autoimmune cerebellar ataxia
Objective: To describe the clinical features and presentation of an auto-immune cerebellar ataxia with asymmetric Holmes tremor and its therapeutic response. Background: Autoimmune cerebellar ataxia…The diagnostic utility of the new MDS criteria for multiple system atrophy: a retrospective autopsy cohort study
Objective: This study aimed to validate the clinical utility of the newly proposed criteria for multiple system atrophy (MSA) by the International Parkinson and Movement…A case of progressive ataxia with palatal tremor (PAPT) syndrome due to idiopathic bilateral hypertrophic olivary degeneration
Objective: To describe a patient with Progressive Ataxia with Palatal Tremor (PAPT) syndrome due to Idiopathic Bilateral Hypertrophic Olivary Degeneration Background: Hypertrophic olivary degeneration (HOD)…Neurotological evaluation on cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (canvas)
Objective: To describe the alterations observed in the vestibular testing in patients with CANVAS. Background: The Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome…POU4F1-related ataxia: phenotyping of a rare genetic ataxia.
Objective: To illustrate the symptoms, signs, and videotaped examination of a rare genetic disorder. Background: POU4F1 encodes a transcription factor involved in nervous system development.…Paraneoplastic cerebellar degeneration due to an anti-SOX 1 antibody manifesting as head tremors, without evidence of underlying malignancy
Objective: To describe a case of Paraneoplastic Cerebellar degeneration (PCD) linked to anti-SOX 1 antibody with no discernible malignancy. Background: PCD is a rare neurological…Clinical Phenotypes and Imaging Localization of Movement Disorders after Acute Stroke
Objective: Objective: The aim of this study was to identify MD in a sample of acute stroke patients and to determine their frequency, clinical characteristics,…“Speaking aids in neurodegenerative ataxia: how to deal with own disability”
Objective: To highlight the role of self-initiated coping strategies in symptoms management of patients with neurodegenerative ataxia. Background: Ataxia is a neurological condition that manifests…Novel CACNA1A splice site variant associated with cerebellar ataxia and mild cognitive impairment; case report of Czech family.
Objective: To describe a case of two related individuals with cerebellar ataxia with a novel variant in the calcium voltage-gated channel subunit alpha1-A (CACNA1A) gene.…Preparing for a clinical trial: a run-in natural history study in POLR3A-associated spastic ataxia with intronic mutations amenable to splice-modulating therapeutic approaches
Objective: The aim of this study is the identification of progression and treatment response outcomes for POLR3A-associated spastic ataxia caused by the recurrent intronic c.1909+22G>A…
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