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…Explosive flurry of seizures and new-onset cortical-subcortical lesions in a patient with Wilson disease
Objective: We report a patient with stable neurological Wilson disease (WD) who developed repeated seizures and new-onset cortical-subcortical lesions, and discuss the possible causes for…Dystonia ataxia (DYTCA) syndrome with prominent handwriting deterioration associated with ADCK3 mutation: two new cases and an overview of the literature
Objective: To report two new patients with ADCK3 mutation presenting with writing deterioration as first sign of DYTCA syndrome. To provide an overview of clinical…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.