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:…Movement disorders in children with neurometabolic and neurodegenerative disorders: A single-center prospective study
Objective: To analyze the prevalence, patterns and severity of movement disorders in children with genetically proven neurometabolic and neurodegenerative diseases. Background: Movement disorders are often…Diffuse cerebellar edema in acute anti-Yo positive paraneoplastic cerebellar degeneration: A case report
Objective: To report a case of acute anti-Yo positive paraneoplastic cerebellar degeneration (PCD) with atypical brain MRI findings. Background: PCD is a rare disease but…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:…
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