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…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 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.…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…Early-onset spastic ataxia in a patient with prion (PRNP) p.Val180Ile mutation
Objective: To broaden the clinical manifestation of PRNP gene mutation-related ataxia. Background: Genetic forms of prion diseases caused by PRNP mutation account for about 10-15%,…
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