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…An elderly female with subacute cerebellar ataxia: A case report
Objective: To report the case of a 62year old woman who presented with rapidly progressive ataxia. Background: Paraneoplastic cerebellar syndrome should be suspected in elderly…Oculomotor findings in paraneoplastic neurological syndromes with cerebellar ataxia
Objective: This study aimed to evaluate oculomotor disturbances in paraneoplastic cerebellar syndromes. Background: Paraneoplastic cerebellar syndrome is an immune-mediated disorder triggered by neoplastic lesion in…Clinical spectrum, imaging characteristics and care giver burden assessment of early onset non-dominant progressive cerebellar ataxias
Objective: To characterise the phenotypic and radiological spectrum of patients with early onset non-dominant progressive cerebellar ataxias and to assess the impact of the disease…atrophy of cranial nerves v and viii is a hallmark of rfc1-related disorder
Objective: To assess the usefulness of cranial nerves V (CNV) and VIII (CNVIII) atrophy as a neuroradiological sign to differentiate RFC1-related disorder from spinocerebellar ataxias…
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