A patient with childhood-onset hearing loss and adult-onset ataxia was genetically diagnosed with Perrault syndrome 5
Objective: A case of adult-onset ataxia with multiple neurologic deficits and ovarian dysgenesis was genetically diagnosed as Perrault syndrome 5 for the first time in…The Achilles’ heel of a craftsman, a complication of Guillain-Barré Syndrome
Objective: To report the case of a patient developing tremor in the course of Guillain-Barré Syndrome (GBS) Background: Neuropathic tremor is a movement disorder that…Botulinum Toxin A in the Management of peripheral mononeuropathy: post herpetic neuralgia and trigeminal neuralgia
Objective: The purpose of this study is determinate the efficacy and safety of botulin toxin A in the treatment of refractory post herpetic neuralgia and…Deep brain stimulation for tremor in chronic inflammatory demyelinating polyneuropathy: a series of three cases
Objective: To describe the effect of Deep Brain Stimulation (DBS) on tremor associated with Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) in three patients. Background: Tremor is…Monitoring electrophysiological recordings in patients with LCIJ therapy
Objective: Levodopa carbidopa intestinal jel (LCIJ) treatment for advanced Parkinson’s disease patients is live-saving for the appropriate patients, however follow up of the patients has…Whole Exome Sequencing Identifies a Homozygous POLG2 Missense Variant in an adult patient presenting with movement disorders and Mitochondrial DNA Depletion
Objective: To determine cause of disease in an adult patient with an undiagnosed chronic neurodegenerative disease. Background: POLG2 is a nuclear gene responsible for mtDNA…Neurofascin is a novel gene associated with autosomal recessive spastic and polyneuropathy
Objective: We aim to find the genetic defect causing infantile-onset ataxia and mild demyelinating neuropathy in two siblings of an Italian consanguineous family. Background: Neurofascin…Characterization of cerebrospinal fluid profile in hereditary spastic paraparesis 10
Objective: Perform a comprehensive clinical characterization and biochemical cerebrospinal fluid (CSF) profile analyses in two Swedish families with hereditary spastic paraparesis 10 (SPG10) caused by…Neuropathy in patients treated with LCIG in the Czech and the Slovak Republic
Objective: To identify occurrence, severity and clinical factors associated with neuropathy in patients with Parkinson's disease (PD) treated with LCIG (levodopa – carbidopa intestinal gel)…Association of Charcot-Marie-Tooth disease, Parkinson’s disease and FIG4 mutations
Objective: Here we report a patient with Charcot-Marie-Tooth (CMT) 4J disease (related to FIG4 mutations) who developed an early-onset Parkinson’s disease during evolution. Background: FIG4 encodes…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.