Late Onset Cerebellar Ataxia in a Patient with a Heterozygous Pathogenic KIF1A Mutation: A Case Report
Objective: Expand upon the current phenotypic understanding of those with KIF1A-associated neurological disorder (KAND), including late onset progressive cerebellar ataxia (CA). Background: KAND encompasses a group…Case report on heterozygous OPA3 gene mutation causing ataxia
Objective: To describe a case of adult-onset ataxia with a heterozygous p.Lys10Asn OPA3 mutation. Background: Mutations in the OPA3 gene, which encodes a mitochondrial membrane…Speech, gait and vestibular instrumental assessment in CANVAS: a case series.
Objective: To describe through a systematic clinical-instrumental approach speech, gait and vestibular alterations in cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS). Background: CANVAS…Pronounced Cervical Dystonia in Ataxia with Vitamin E Deficiency
Objective: Objective: To describe a case report of an atypical phenotype of ataxia with vitamin E deficiency (AVED) and marked cervical dystonia. Background: Background: AVED…Clinical and genetic characteristics of a cohort of 20 patients with confirmed biallelic pathogenic SPG7 mutations from the North West of England
Objective: To identify the prevalence and phenotype of patients with biallelic pathogenic SPG7 mutations Background: Spastic Paraplegia Type 7 (SPG7) is an autosomal recessive disorder…Dopamine dysfunction in nigro-striatal pathway—multi-axial pathology in SCA 12
Objective: To assert pathophysiology in spinocerebellar ataxia type 12 (SCA12) extends way beyond cerebellar or spinal pathology. To further sensitise scientific community about consistent nigro-striatal…Impaired reinforcement learning in patients with cerebellar ataxia
Objective: To further characterize cerebellar learning processes as well as learning impairment pattern in patients with cerebellar dysfunction. Background: Supervised learning (i.e., learning from error)…Diagnostic algorithm in recessive and sporadic early-onset ataxias
Objective: To develop a diagnostic algorithm that allows to differentiate recessive or sporadic ataxias by the clinical phenotype, biochemical markers and neuroimaging studies of the…Sporadic progressive ataxia and palatal tremor: a case series
Objective: To further characterize the clinical syndrome of sporadic progressive ataxia and palatal tremor (PAPT). Background: Defined by adult-onset progressive cerebellar features and tremor of…Cerebellar and other motor symptoms relationship with MRI features in Huntington disease.
Objective: To analyze the relationship between motor scales and brain magnetic resonance imaging (MRI) features in a cohort of Huntington disease (HD) patients. Background: Cerebellar…
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