Impact of dual tasking and sensory manipulation on balance in Fragile X-associated tremor/ataxia syndrome (FXTAS) and potential prodromal postural sway deficits in asymptomatic FMR1 premutation carriers
Objective: To detect subtle postural sway deficits in FMR1 premutation carriers who are asymptomatic for signs of FXTAS and determine the impact of dual tasking…The neurological manifestations of PHARC syndrome: a systematic review
Objective: To provide a systematic review of the neurological manifestations of the PHARC syndrome. Background: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataracts (PHARC) syndrome…cerebellar cognitive affective syndrome is frequent in rfc1-related disorder
Objective: To describe the prevalence and clinical profile of cerebellar cognitive affective syndrome (CCAS) in patients with RFC1-related disorder. Background: Since the recent description of…A 78-year-old man with progressive ataxia, palatal tremor, parkinsonism and motor neuron disease.
Objective: To report a unique case of palatal tremor associated with parkinsonism, ataxia and motor neuron disease. Background: Progressive ataxia with palatal tremor (PAPT) is…Extended phenotypes of autosomal recessive cerebellar ataxia type 1: learn from a novel mutation of SYNE1 gene
Objective: Mutations in the synaptic nuclear envelope protein 1 (SYNE1) gene have been reported to cause ARCA type 1 with a remarkable heterogeneity in clinical…Cerebellar ataxia due to vitamin E deficiency
Objective: To report the case of a young man that developed cerebellar ataxia due to vitamin E deficiency secondary to intestinal malabsorption. Background: Cerebellar ataxia…Cervical Dystonic Tremor: A Characteristic Feature Of Ataxia With Vitamin E Deficiency
Objective: we aimed to investigate the clinical features of Ataxia with vitamin E deficiency (AVED) patients and compare it with Friedreich ataxia (FRDA) patients. Background:…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…
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