Novel p.Pro193Arg missense mutation in ABCD1-gene associated with phenotype of ALD/AMN: a case report
Objective: To describe a novel mutation p.Pro193Arg of the ABCD1-Gene in a patient presenting with clinical phenotype of Adrenomyeloneuropathy (AMN). Background: Adrenoleukodystrophy comprises progressive neurologic…The longevity gene Klotho and its CSF protein profiles as modifier for Parkinson´s disease in a longitudinal study
Objective: Our objective was to evaluate phenotype modifying effects of variants in longevity genes in PD. Background: Parkinson´s disease (PD) has a large phenotypic variability,…Temporal Emergence of Symptoms and Functional Impairments in Patients With Pantothenate Kinase-Associated Neurodegeneration (PKAN)
Objective: To describe the temporal emergence of PKAN symptoms and functional impairments across the spectrum of PKAN severity. Background: PKAN, an autosomal recessive, progressive neurodegenerative…Case report: Chorea-acynthocytosis with two compoud heterozygous VPS13A large deletions
Objective: We report a 33 year old male patient without functional protein due to compound heterozygosity for VPS13A deletions and discuss the molecular diagnostic difficulties…The effect of ATP13A2/PARK9 levels on a-syn spreading in mice brains
Objective: The purpose of this study is to analyze the effect of ATP13A2/PARK9-mediated a-syn secretion on a-syn spreading in mice. Background: Recent studies with cell…Longitudinal analysis of the modified Hoehn and Yahr disease stage in PD-1101, a Phase 1b clinical study of VY-AADC01
Objective: To describe changes over the first year in disease severity and activities of daily living using modified Hoehn and Yahr (mH&Y) stage and UPDRS…Social Network for the diagnosis of RLS
Objective: Identify patients with RLS using social media, describe time of evolution, previous diagnosis, treatment, symptoms severity and quality of life perception. Background: RLS is a…Pilot Study Comparing Home Sleep Profiler to In-laboratory Polysomnogram for REM Sleep Behavior Disorder Diagnosis
Objective: To compare the Sleep Profiler (SP), an FDA-approved device for home evaluation of sleep disorders, to the gold standard sleep laboratory polysomnogram (PSG) in…“So much easier”; patient’s perceptions of Virtual Clinics for Parkinson’s Disease
Objective: Our virtual clinic for People with Parkinson’s disease (PwP) is a service innovation, providing a consultation with a Parkinson’s clinic doctor via telephone, with…Motor and non-motor symptoms burden, autonomy, quality of life and principal caregiver status is worse in patients with 5-2-1 positive criteria: a simple screening tool for identifying PD patients who need an optimization of Parkinson´s treatment.
Objective: To compare quality of life (QoL), non-motor symptoms (NMS) burden, autonomy for activities of daily living (ADL) and patient´s principal caregiver status in PD…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.