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…Volumetric analysis of the Corpus Callosum in Hereditary Cerebellar Ataxia
Objective: To analyze corpus callosum (CC) volumes on MRI in patients under follow-up for confirmed or suspected hereditary cerebellar ataxia Background: It is recognized that…CerebNet: Deep learning cerebellar subsegmentation for fast and reliable atrophy quantification
Objective: Establish a fast and reliable automatic tool for cerebellar subsegmentation. Background: Quantifying the volume of the cerebellum and its lobes is of profound interest…A bitter syndrome as a cause of refractory movement disorders
Objective: Submit a case of GLUT-1 deficiency for consideration in the differential diagnosis of movement disorders and refractory epilepsies because early treatment will prevent progressive…Gait ataxia and Autonomic dysfunction as early signs of Creutzfeldt-Jakob Disease: A Case Report
Objective: To highlight unusual early presenting symptoms of Sporadic Creutzfeldt-Jakob Disease (sCJD). Background: Prion diseases, a group of rare and fatal diseases caused by an…
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