Another mitochondrial disease mimic: Two Case reports of adult riboflavin transporter deficiency (RTD) type 2 with muscle adenosine monophosphate (AMP) deaminase deficiency
Objective: To present two rare cases of RTD type 2 with co-existing AMP deaminase deficiency. Background: RTD, formerly known as Brown-Vialetto-Van Laere syndrome, is a…A novel p.Trp42Arg REEP1 mutation associated with autosomal recessive Distal spinal muscular atrophy with vocal cord and diaphragmatic paralysis
Objective: To present a patient with homozygous mutation in Receptor Expression-Enhancing Protein 1 (REEP1) gene manifesting a severe congenital Distal spinal muscular atrophy (SMA) with…PEX 16: EXPANDING THE CLINICAL SPECTRUM OF PEROXISOMAL BIOGENESIS DISORDERS
Objective: IDENTIFICATION OF A NOVEL PEX 16 GENE MUTATION IN A YOUNG PATIENT WITH SLOWLY PROGRESSIVE ATAXIA AND SPASTICITY. Background: PEROXISOMAL BIOGENESIS DISORDERS(PBD) ARE CHARACTERIZED…Skin in the game: Small fiber neuropathy in Parkinson’s disease and atypical parkinsonisms.
Objective: The aim of our study was to compare somatic and autonomic small fiber density, through skin biopsy, in Parkinson's disease (PD) and atypical parkinsonisms…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…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.