Inherited neuromyotonia associated with a dominant-negative KCNQ2 mutation
Objective: To report the phenotypic and genotypic characteristics of a Taiwanese family with inherited neuromyotonia associated with KCNQ2 mutation. Background: Neuromyotonia is a disorder of…Management of chronic polyneuropathy associated with levodopa-carbidopa intestinal gel infusion in Parkinson’s disease: Review of the strategies and perspectives
Objective: (1) To make an inventory of the current strategies used to treat or prevent the occurrence of chronic polyneuropathy (CPN) in patients with Parkinson’s…Motor speech and swallowing phenotype of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)
Objective: To provide a comprehensive quantitative and qualitative characterization of speech and swallowing function in ARSACS to support diagnostics, provide insights into the underlying pathology,…A clinical and pathological study of small fibers in Friedreich´s Ataxia
Objective: To investigate the small fibers pathology in Friedreich´s Ataxia (FRDA). Background: FRDA is an inherited movement disorder caused by homozygous GAA expansions in the…Parkinson’s disease, peripheral neuropathy, impaired gait, and the role of physiotherapy
Objective: Sensory system is impaired in PN. Sensory impairment can affect balance. PD patients have impaired balance. Thus, PD patients with PN are more likely…Sensory signs and neuropathic pain in advanced Parkinson’s disease under levodopa treatment
Objective: To evaluate whether patients affected by Parkinson’s disease (PD) under levodopa/carbidopa intestinal gel (LCIG) therapy have alterations in sensory symptoms and signs and/or painful…Parkinson ‘ s disease and Peripheral Nervous System : Wax and Waning Non-motor offs and Levodopa-use Topics
Objective: To relate the non-motor offs theory , sensory signs and levodopa use with neurophysiiology terms in PD Background: Peripheral Nervous System disease concept in…An unusual case of sporadic Creutzfeld Jacob disease presenting as acute neuropathy
Objective: To describe an unusual case of sporadic Creutzfeld Jacob Disease (CJD) that initially presented with ascending tingling of lower extremities. Background: Prion diseases are…Serum vitamin B12 levels in patients with Parkinson’s disease and its association with peripheral neuropathy and cognition
Objective: To compare serum Vitamin B12 levels among PD patients and normal controls and to assess the association of Vitamin B12 levels with various disease parameters, peripheral…Parkinson Disease-Associated Polyneuropathy: A Biomarker of Disease Severity?
Objective: Objective: We sought to examine the association between Parkinson disease (PD) associated polyneuropathy (PD-PNP) and levodopa dose, age, and disease duration in a cross-sectional,…