Movement disorder associated with 3-Idroxyisobutyryl-Coa hydrolase (HIBCH) deficiency
Objective: To describe an early onset movement disorder due to impairment of valine metabolism. Background: HIBCH deficiency is a rare inborn error of valine metabolism…Chinese patients with Wilson disease and the treatments: exampled with Unithiol (DMPS) intravenous infusion
Objective: The authors performed a retrospective analysis about effects and side-effects for a series of 136 Chinese patients with Wilson disease, treated by Unithiol (DMPS)…Expanding the clinical phenotype of BPAN: A case report
Objective: To describe an atypical presentation of a rare NBIA disorder Background: Beta-propeller protein-associated neurodegeneration (BPAN) manifests in infancy as an initially static encephalopathy with…Exosomal alpha synuclein secretion is beneficial for cellular models of Kufor-Rakeb syndrome
Objective: The purpose of this study is to investigate the effect of induction of exosomal a-syn secretion on PARK9-mediated neurotoxicity. Background: Kufor-Rakeb syndrome (KRS) is…Neuropathology of a South Korean with Perry syndrome with DCTN1 T78C mutation
Objective: To analyze macroscopic and microscopic findings of the Korean patient with Perry syndrome (PS), who had been already established about clinical features with genetic…Contribution of the French registry in the understanding of Wilson disease
Objective: To describe patients from the French Wilson disease (WD) registry. Background: WD is a rare genetic disorder caused by loss of function of the…Does Niemann Pick Type C heterozygosity predispose to late-onset neurodegeneration?
Objective: Do single NPC1 or NPC2 mutation also predispose to late-onset neurodegeneration, e. g. PD or dementia? Background: Niemann-Pick type C (NPC) is an autosomal…Juvenile parkinsonism associated with a novel HSD17B10 mutation in a patient with HSD10 disease
Objective: We describe the case of a female patient with HSD10 disease associated with parkinsonism, with a novel mutation in the HSD17B10 gene. Background: HSD10…Diagnostic tips from a case series of patients with Late Onset Tay Sachs disease
Objective: To describe a population of eight patients with Late Onset Tay Sachs (LOTS) disease and offer tips to aid in diagnosing this rare condition.…A Randomized Trial of Deferiprone for Pantothenate Kinase-Associated Neurodegeneration
Objective: To investigate whether treatment with the iron-chelating drug deferiprone (DFP) has benefit in patients with pantothenate kinase-associated neurodegeneration (PKAN), the most common form of…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.