Types of Pain in Parkinson`s Disease Patients
Objective: To present the characteristics of four different types of pain in Parkinson`s disease (PD) patients. Background: Neurodegeneration can cause a nociceptive disturbances at many…Mutations of COX20 affect the assembly and function of complex IV causing early onset ataxia, dystonia and neuropathy
Objective: To find the causes of an early onset complex movement disorder in two sisters from a non-consanguineous family, and confirm the COX20 variants responsible for such mitochondrial…Painful Legs and Moving Toes (PLMT): A Case Series
Objective: Describe and characterize our PLMT patients in terms of clinical presentation, neurophysiology, imaging, associated conditions and response to treatment. Background: First described by Spillane…Association of TTPA mutation and peripheral nerve involvement in Gait disturbances in Ataxia With Vitamin E Deficiency (AVED)
Objective: To determine if peripheral nerve involvement and the type of TTPA mutation are determinant for gait ataxia in patients with AVED in vitamin E…Peripheral neuropathy in de novo patients with Parkinson’s disease
Objective: The objectives of this study were to evaluate the risk of PNP, including CTS, with PD patients and to evaluate the role of some…Polyneuropathy in patients with continuous levodopa/carbidopa intestinal gel (LCIG) infusion
Objective: To assess frequency of polyneuropathy in patients with LCIG and the usefulness of routine nerve conduction studies follow-up Background: Continuous levodopa infusion is an…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…