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…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…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…Presence of neuropathy in most frequent hereditary cerebellar ataxia SCA1, SCA2 and FRDA in Serbian population
Objective: The aim of our study is to determine the frequency and pattern of neuropathy in patients with the most frequent hereditary ataxias in Serbian…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…COVID-19 associated opsoclonus myoclonus ataxia syndrome
Objective: To present a rare neurological syndrome as a potential parainfectious complication of SARS-CoV-2 infection. Background: Օpsoclonus myoclonus syndrome (OMS) is rare complication of the…Opsoclonus Myoclonus Syndrome due to subdural hematoma: an uncommon etiology
Objective: . Background: Introduction:Opsoclonus myoclonus syndrome is characterized by myoclonic jerks and ocular opsoclonus (spontaneous, arrhythmic, and conjugate ocular saccades that occur in all directions…Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia
Objective: In this study, we aimed to examine clinically and genetically a patient series with ataxia from southern Sweden with known or unknown genetic causes.…Expanding the clinical phenotype of ataxia associated with PMPCA mutations
Objective: To describe two probable cases of autosomal recessive ataxia associated with mutations in the PMPCA gene (ATX-PMPCA) secondary to novel compound heterozygous variants. Background:…
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