4 documents found, page 1 of 1
The frequency of non-motor symptoms in SCA3 and their association with disease ...
Hengel, Holger; Martus, Peter; Faber, Jennifer; Giunit, Paola; Garcia-Moreno, Hector; Solanky, Nita; Klockgether, Thomas; Reetz, KathrinBackground Non-motor symptoms (NMS) are a substantial burden for patients with SCA3. There are limited data on their frequency, and their relation with disease severity and activities of daily living is not clear. In addition, lifestyle may either influence or be affected by the occurrence of NMS. Objective To characterize NMS in SCA3 and investigate possible associations with disease severity and lifestyle fac...
A standardised protocol for blood and cerebrospinal fluid collection and proces...
Santana, Magda M.; Gaspar, Laetitia S.; Pinto, Maria M.; Silva, Patrick Joel da; Adão, Diana; Pereira, Dina; Ribeiro, Joana Afonso; Cunha, InêsThe European Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative (ESMI) is a consortium established with the ambition to set up the largest European longitudinal trial-ready cohort of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease (SCA3/MJD), the most common autosomal dominantly inherited ataxia worldwide. A major focus of ESMI has been the identification of SCA3/MJD biomarkers to enable futur...
Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preata...
Wilke, Carlo; Haas, Eva; Reetz, Kathrin; Faber, Jennifer; Garcia-Moreno, Hector; Santana, Magda M.; van de Warrenburg, Bart; Hengel, HolgerWith molecular treatments coming into reach for spinocerebellar ataxia type 3 (SCA3), easily accessible, cross-species validated biomarkers for human and preclinical trials are warranted, particularly for the preataxic disease stage. We assessed serum levels of neurofilament light (NfL) and phosphorylated neurofilament heavy (pNfH) in ataxic and preataxic subjects of two independent multicentric SCA3 cohorts an...
A critique of the second consensus criteria for multiple system atrophy
Stankovic, Iva; Quinn, Niall; Vignatelli, Luca; Antonini, Angelo; Berg, Daniela; Coon, Elizabeth; Cortelli, Pietro; Fanciulli, AlessandraMultiple system atrophy (MSA) is an adult-onset progressive neurodegenerative disorder that manifests clinically with autonomic failure, parkinsonism, and ataxia in any combination. Oligodendroglial cytoplasmatic inclusions consisting of misfolded α-synuclein are a pathological hallmark of disease. The clinical diagnosis of MSA is typically delayed as a result of incomplete or nonspecific manifestations during ...