SPG21 in Europe: Mutations outside the Amish community
Objective: We herein report two Austrian families harbouring mutations in the SPG21-gene. Background: SPG21 is a complicated, autosomal recessive hereditary spastic paraplegia. It presents with…D-penicillamine induced lupus erythematosus – the complication of Wilson’s disease treatment – a case report.
Objective: Wilson’s disease (WD) is an inherited disorder of copper metabolism with copper accumulation in different organs and clinical symptoms related to the affected organs…Long term follow-up of Wilson disease patients in Poland. Report from the national reference centre.
Objective: We present seven decades of experience of a single reference centre covering most adult Wilson disease (WD) patients in Poland. Background: WD is a rare…Impact of ALXN1840 on the neurological symptoms of Wilson disease: secondary outcomes of a phase 2, open-label, single-arm study
Objective: To evaluate neurological efficacy outcomes of ALXN1840 treatment in adults with Wilson disease (WD) from a phase 2, open-label, single-arm study (NCT02273596). Background: WD…Gait Improvement in Pegzilarginase-treated Patients With Arginase 1 Deficiency: A Blinded Kinematic Analysis
Objective: To assess the impact of pegzilarginase therapy on gait kinematics in Arginase 1 Deficiency (ARG1-D) patients. Background: High arginine levels in patients with ARG1-D…Eye movement disorders in adolescents and adults with an inborn errors of metabolism
Objective: To describe and analyze eye movements in patients with an inborn errors of metabolism Background: Inborn errors of metabolism (IEMs) presenting in adults are…Genotype-Phenotype Correlations in Niemann-Pick Disease Type C
Objective: To evaluate genetic and phenotypic variability and correlations in adult Niemann Pick disease type C (NPC) patients. Background: NPC is an autosomal recessive inherited…Hyperintensity in Middle Cerebellar Peduncles, an infrequent and reversible finding in Marchiafava-Bignami Disease.
Objective: We present a case of Marchiafava-Bignami Disease (MBD), where reversible hyperintensity in Middle Cerebellar Peduncle (MCP-sign) is observed. Background: MCP sign is an infrequent…Childhood-Onset Hemidystonia: A Transportophaty related to SLC6A3 missense mutation
Objective: To present the case of a childhood-onset hemidystonia carrying a homozygous SLC6A3 missense mutation. Background: Dystonia is a movement disorder characterized by sustained or…Clinical presentation of Wilson’s disease in pediatric and adult patients: A systematic review
Objective: To identify the most frequent signs and symptoms in Wilson's disease comparing between pediatric and adult patients. Background: Wilson's disease or Progressive Lenticular Degeneration…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.