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...
The autophagy-enhancing drug carbamazepine improves neuropathology and motor im...
Vasconcelos-Ferreira, Ana; Carmo-Silva, Sara; Codêsso, José Miguel Antunes; Silva, Patrick Joel da; Martinez, Alberto Rolim MuroMachado-Joseph disease (MJD), or spinocerebellar ataxia type 3 (SCA3), is the most common autosomal dominantly-inherited ataxia worldwide and is characterised by the accumulation of mutant ataxin-3 (mutATXN3) in different brain regions, leading to neurodegeneration. Currently, there are no available treatments able to block disease progression. In this study, we investigated whether carbamazepine (CBZ) would ac...
Machado-Joseph Disease: Understanding Epidemiologic and Clinical Features and a...
Silva, Patrick Joel daDissertação de Mestrado em Farmacologia Aplicada apresentada à Faculdade de Farmácia; A doença de Machado-Joseph (DMJ), também conhecida por ataxia espinocerebelosa do tipo 3, é uma doença neurodegenerativa rara. De entre todas as ataxias autossómicas dominantes, é a mais frequente, afetando à escala global 1.5 a cada 106 indivíduos. A DMJ é determinada pela existência de um número anormal de repetições do trin...