The Homogeneous Azorean Machado-Joseph Disease Cohort: Characterization and Contributions to Advances in Research
Machado-Joseph disease (MJD)/spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant ataxia worldwide. MJD is characterized by late-onset progressive cerebellar ataxia associated with variable clinical findings, including pyramidal signs and a dystonic-rigid extrapyramidal syndrom...
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MDPI AG
2023-01-01
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| Series: | Biomedicines |
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| Online Access: | https://www.mdpi.com/2227-9059/11/2/247 |
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| author | Manuela Lima Mafalda Raposo Ana Ferreira Ana Rosa Vieira Melo Sara Pavão Filipa Medeiros Luís Teves Carlos Gonzalez João Lemos Paula Pires Pedro Lopes David Valverde José Gonzalez Teresa Kay João Vasconcelos |
| author_facet | Manuela Lima Mafalda Raposo Ana Ferreira Ana Rosa Vieira Melo Sara Pavão Filipa Medeiros Luís Teves Carlos Gonzalez João Lemos Paula Pires Pedro Lopes David Valverde José Gonzalez Teresa Kay João Vasconcelos |
| author_sort | Manuela Lima |
| collection | DOAJ |
| description | Machado-Joseph disease (MJD)/spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant ataxia worldwide. MJD is characterized by late-onset progressive cerebellar ataxia associated with variable clinical findings, including pyramidal signs and a dystonic-rigid extrapyramidal syndrome. In the Portuguese archipelago of the Azores, the worldwide population cluster for this disorder (prevalence of 39 in 100,000 inhabitants), a cohort of MJD mutation carriers belonging to extensively studied pedigrees has been followed since the late 1990s. Studies of the homogeneous Azorean MJD cohort have been contributing crucial information to the natural history of this disease as well as allowing the identification of novel molecular biomarkers. Moreover, as interventional studies for this globally rare and yet untreatable disease are emerging, this cohort should be even more important for the recruitment of trial participants. In this paper, we profile the Azorean cohort of MJD carriers, constituted at baseline by 20 pre-ataxic carriers and 52 patients, which currently integrates the European spinocerebellar ataxia type 3/Machado-Joseph disease Initiative (ESMI), a large European longitudinal MJD cohort. Moreover, we summarize the main studies based on this cohort and highlight the contributions made to advances in MJD research. Knowledge of the profile of the Azorean MJD cohort is not only important in the context of emergent interventional trials but is also pertinent for the implementation of adequate interventional measures, constituting relevant information for Lay Associations and providing data to guide healthcare decision makers. |
| first_indexed | 2024-03-11T09:07:55Z |
| format | Article |
| id | doaj.art-513d8653e60041f1b9dd1ffddd926200 |
| institution | Directory Open Access Journal |
| issn | 2227-9059 |
| language | English |
| last_indexed | 2024-03-11T09:07:55Z |
| publishDate | 2023-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Biomedicines |
| spelling | doaj.art-513d8653e60041f1b9dd1ffddd9262002023-11-16T19:15:23ZengMDPI AGBiomedicines2227-90592023-01-0111224710.3390/biomedicines11020247The Homogeneous Azorean Machado-Joseph Disease Cohort: Characterization and Contributions to Advances in ResearchManuela Lima0Mafalda Raposo1Ana Ferreira2Ana Rosa Vieira Melo3Sara Pavão4Filipa Medeiros5Luís Teves6Carlos Gonzalez7João Lemos8Paula Pires9Pedro Lopes10David Valverde11José Gonzalez12Teresa Kay13João Vasconcelos14Faculdade de Ciências e Tecnologia, Universidade dos Açores, 9500-321 Ponta Delgada, PortugalInstituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, 4200-135 Porto, PortugalFaculdade de Ciências e Tecnologia, Universidade dos Açores, 9500-321 Ponta Delgada, PortugalFaculdade de Ciências e Tecnologia, Universidade dos Açores, 9500-321 Ponta Delgada, PortugalFaculdade de Ciências e Tecnologia, Universidade dos Açores, 9500-321 Ponta Delgada, PortugalFaculdade de Ciências e Tecnologia, Universidade dos Açores, 9500-321 Ponta Delgada, PortugalFaculdade de Ciências e Tecnologia, Universidade dos Açores, 9500-321 Ponta Delgada, PortugalServiço de Psicologia Clínica, Hospital do Divino Espírito Santo, 9500-370 Ponta Delgada, PortugalUnidade de Psicologia Clínica, Hospital do Santo Espírito da Ilha Terceira, 9700-049 Angra do Heroísmo, PortugalServiço de Neurologia, Hospital do Santo Espírito da Ilha Terceira, 9700-049 Angra do Heroísmo, PortugalServiço de Neurologia, Hospital do Divino Espírito Santo, 9500-370 Ponta Delgada, PortugalServiço de Patologia Clínica, Unidade de Saúde da Ilha das Flores, 9500-370 Santa Cruz das Flores, PortugalAugenarztpraxis Petrescu Wuppertal, Department of Ophthalmology, 42389 Wuppertal, GermanyServiço de Genética Médica, Hospital D. Estefânia, 1169-045 Lisboa, PortugalFaculdade de Ciências e Tecnologia, Universidade dos Açores, 9500-321 Ponta Delgada, PortugalMachado-Joseph disease (MJD)/spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant ataxia worldwide. MJD is characterized by late-onset progressive cerebellar ataxia associated with variable clinical findings, including pyramidal signs and a dystonic-rigid extrapyramidal syndrome. In the Portuguese archipelago of the Azores, the worldwide population cluster for this disorder (prevalence of 39 in 100,000 inhabitants), a cohort of MJD mutation carriers belonging to extensively studied pedigrees has been followed since the late 1990s. Studies of the homogeneous Azorean MJD cohort have been contributing crucial information to the natural history of this disease as well as allowing the identification of novel molecular biomarkers. Moreover, as interventional studies for this globally rare and yet untreatable disease are emerging, this cohort should be even more important for the recruitment of trial participants. In this paper, we profile the Azorean cohort of MJD carriers, constituted at baseline by 20 pre-ataxic carriers and 52 patients, which currently integrates the European spinocerebellar ataxia type 3/Machado-Joseph disease Initiative (ESMI), a large European longitudinal MJD cohort. Moreover, we summarize the main studies based on this cohort and highlight the contributions made to advances in MJD research. Knowledge of the profile of the Azorean MJD cohort is not only important in the context of emergent interventional trials but is also pertinent for the implementation of adequate interventional measures, constituting relevant information for Lay Associations and providing data to guide healthcare decision makers.https://www.mdpi.com/2227-9059/11/2/247MJDSCA3spinocerebellar ataxia type 3homogeneous cohortsEuropean Spinocerebellar Ataxia type 3/Machado-Joseph disease Initiative (ESMI)polyglutamine disorders |
| spellingShingle | Manuela Lima Mafalda Raposo Ana Ferreira Ana Rosa Vieira Melo Sara Pavão Filipa Medeiros Luís Teves Carlos Gonzalez João Lemos Paula Pires Pedro Lopes David Valverde José Gonzalez Teresa Kay João Vasconcelos The Homogeneous Azorean Machado-Joseph Disease Cohort: Characterization and Contributions to Advances in Research Biomedicines MJD SCA3 spinocerebellar ataxia type 3 homogeneous cohorts European Spinocerebellar Ataxia type 3/Machado-Joseph disease Initiative (ESMI) polyglutamine disorders |
| title | The Homogeneous Azorean Machado-Joseph Disease Cohort: Characterization and Contributions to Advances in Research |
| title_full | The Homogeneous Azorean Machado-Joseph Disease Cohort: Characterization and Contributions to Advances in Research |
| title_fullStr | The Homogeneous Azorean Machado-Joseph Disease Cohort: Characterization and Contributions to Advances in Research |
| title_full_unstemmed | The Homogeneous Azorean Machado-Joseph Disease Cohort: Characterization and Contributions to Advances in Research |
| title_short | The Homogeneous Azorean Machado-Joseph Disease Cohort: Characterization and Contributions to Advances in Research |
| title_sort | homogeneous azorean machado joseph disease cohort characterization and contributions to advances in research |
| topic | MJD SCA3 spinocerebellar ataxia type 3 homogeneous cohorts European Spinocerebellar Ataxia type 3/Machado-Joseph disease Initiative (ESMI) polyglutamine disorders |
| url | https://www.mdpi.com/2227-9059/11/2/247 |
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