Parkinsonism in Christianson Syndrome: A Unique Presentation of a Unique Syndrome
Objective: Phenotypic variability in Christianson Syndrome Background: The SLC9A6 gene encodes a sodium-hydrogen exchanger-6 protein involved in endosomal trafficking. Loss-of-function variants in SLC9A6 gene have…High dose of levodopa and Segawa disease
Objective: To analyze the dose-dependent effects of levodopa on the symptoms of the disease in our case. Background: In 1976, Segawa et al. reported dopa-responsive…Oligosymptomatic Fahr’s syndrome (2 clinical cases)
Objective: Two clinical cases of Fahr`s syndrome was presented. Background: Fahr's syndrome (FS) or secondary bilateral striatopallidodentate calcinosis is a rare neurological disorder characterized by…Cerebrotendinous Xanthomatosis: A heterogeneous condition
Objective: Cerebrotendinous xanthomatosis(CTX)is a relentless progressive disorder with treatment predominantly preventive,so early diagnosis is crucial.The object of this study is to evaluate clinical manifestations and…Clinical characterization of tremor in patients with Phenylketonuria (PKU)
Objective: To assess the occurrence, age at onset, distribution, associated neurological signs and possible pathogenetic biomarkers of tremor in PKU. Background: PKU is an inborn…Neurological improvement with WTX101 treatment in a Phase 2, multi-center, open label study in Wilson Disease
Objective: The objective of this study was to characterize neurological manifestations in Wilson Disease (WD) patients and describe specific neurological changes after 24 weeks’ treatment…Neurologic Wilson’s Disease: Case Series on a Diagnostic and Therapeutic Emergency
Objective: To present two cases of Neurologic Wilson's Disease with two different clinical picture. To review the the important diagnostics and tests in clinching the…The first case of Perry syndrome in Estonia
Objective: Perry syndrome is an autosomal dominant disorder characterized by progressive parkinsonism and central hypoventilation. Background: Since the original publication in 1975 there have been…An international survey of stiff person spectrum disorders: Exploring the clinical spectrum and unmet needs
Objective: To build a platform in order to investigate the clinical spectrum of stiff person syndrome and related disorders, and to explore possible gaps in…Biological course and natural history of hereditary spastic paraplegia type 11 (SPG11)
Objective: We aim to establish biological markers for the natural history and course of hereditary spastic paraplegia (HSP) type 11 (SPG11) using multiple readout parameters…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.