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| DOI | 10.3390/IJMS26094074 | ||||
| Año | 2025 | ||||
| Tipo | revisión |
Citas Totales
Autores Afiliación Chile
Instituciones Chile
% Participación
Internacional
Autores
Afiliación Extranjera
Instituciones
Extranjeras
The Movement Disorders Society recommends the DYT/PARK prefix for genes where dystonia and parkinsonism are prominent in approximately half or more of patients. This systematic review explores the genotype-phenotype correlations of GLB1, SLC6A3, SLC30A10, PLA2G6, and SLC39A14-recently classified as DYT SLC39A14 and historically linked to dystonia-parkinsonism. We searched PubMed and the Human Gene Mutation Database using standardized terms, including English-language, peer-reviewed publications up to February 2024. Following the MDSGene protocol, we extracted individual-level data on patients with biallelic pathogenic variants and at least one movement disorder. Features were marked "missing" if not explicitly reported. Of 1828 articles, 128 were eligible. We identified 386 patients and 262 variants. The median age at onset was 3 years for GLB1, 3 months for SLC6A3, 2.5 years for SLC30A10, 1.5 years for SLC39A14, and 16 years for PLA2G6. Missing data may reflect underreporting of negative findings. Case reports/serie, may bias toward atypical presentations. Our analysis showed dystonia-parkinsonism predominates in SLC6A3 and PLA2G6, while GLB1, SLC30A10, and SLC39A1 show predominantly dystonic phenotypes with a low frequency of parkinsonism. Ataxia was common in GLB1 and PLA2G6. Awareness of these phenotypes is essential for early diagnosis and intervention, particularly in treatable conditions like SLC30A10 or SLC39A14. The predominantly dystonic phenotype in GLB1, SLC30A10, and SLC39A14 suggest that the DYT prefix may be more appropriate, highlighting the need to reconsider their nomenclature, and the importance of systematic reviews.
| Ord. | Autor | Género | Institución - País |
|---|---|---|---|
| 1 | Rodriguez-Antiguedad, Jon | - |
St Pau Hosp - España
Inst Invest Biomed St Pau - España Univ Autonoma Barcelona UAB - España Ctr Invest Biomed Red Enfermedades Neurodegenerat - España Hospital de La Santa Creu I Sant Pau - España Inst. Investigacions Biomediques A. - España Universitat Autònoma de Barcelona - España Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas - España |
| 2 | Rajalingam, Rajasumi | - |
Western Michigan Univ - Estados Unidos
UNIV TORONTO - Canadá Western Michigan University Homer Stryker M.D. School of Medicine - Estados Unidos Toronto Western Hospital - Canadá |
| 3 | Kruger, Clara | - |
Univ Lubeck - Alemania
Universität zu Lübeck - Alemania |
| 4 | Teixeira-dos-Santos, Daniel | - |
Hosp Clin Porto Alegre - Brasil
Hospital de Clínicas de Porto Alegre - Brasil |
| 5 | Sun, Christine | - |
UNIV TORONTO - Canadá
Toronto Western Hospital - Canadá |
| 6 | Fernandez-Toledo, Elias | - |
Pontificia Universidad Católica de Chile - Chile
Facultad de Medicina - Chile |
| 7 | Duarte, Alexia | - |
UNIV FED PARANA - Brasil
Universidade Federal do Paraná - Brasil |
| 8 | Saffie-Awad, Paula | - |
Clínica Santa María - Chile
|
| 9 | Barrett, Matthew J. | - |
Virginia Commonwealth Univ - Estados Unidos
UCSF School of Medicine - Estados Unidos |
| 10 | Flanigan, Joseph L. | - |
UNIV VIRGINIA - Estados Unidos
University of Virginia School of Medicine - Estados Unidos |
| 11 | Emamikhah, Maziar | - |
UNIV TORONTO - Canadá
Toronto Western Hospital - Canadá |
| 12 | Patel, Neepa | - |
Rush Univ - Estados Unidos
Rush University Medical Center - Estados Unidos |
| 13 | San Luciano, Marta | - |
UNIV CALIF SAN FRANCISCO - Estados Unidos
UCSF School of Medicine - Estados Unidos |
| 14 | Cooper, Christine | - |
Med Univ South Carolina - Estados Unidos
Ralph H Johnson VA Med Ctr - Estados Unidos College of Medicine - Estados Unidos VA Medical Center - Estados Unidos |
| 15 | Bahr, Natascha | - |
Univ Lubeck - Alemania
Universität zu Lübeck - Alemania |
| 16 | Oguh, Odinachi | - |
CLEVELAND CLIN - Estados Unidos
Cleveland Clinic Foundation - Estados Unidos |
| 17 | Buhrmann, Alissa | - |
Univ Lubeck - Alemania
Universität zu Lübeck - Alemania |
| 18 | Vater, Merle | - |
Univ Lubeck - Alemania
Universität zu Lübeck - Alemania |
| 19 | Fuchshofen, Rabea | - |
Univ Lubeck - Alemania
Universität zu Lübeck - Alemania |
| 20 | Vulinovic, Franca | - |
Univ Lubeck - Alemania
Universität zu Lübeck - Alemania |
| 21 | Parreidt, Maik-Iven | - |
Univ Lubeck - Alemania
Universität zu Lübeck - Alemania |
| 22 | Weissbach, Anne | - |
Univ Clin Schleswig Holstein - Alemania
Univ Lubeck - Alemania Universitätsklinikum Schleswig-Holstein Campus Lübeck - Alemania Universität zu Lübeck - Alemania |
| 23 | Lohmann, Katja | - |
Univ Lubeck - Alemania
Universität zu Lübeck - Alemania |
| 24 | Klein, Christine | - |
Univ Lubeck - Alemania
Universität zu Lübeck - Alemania |
| 25 | Marras, Connie | - |
UNIV TORONTO - Canadá
Toronto Western Hospital - Canadá |
| 26 | Camargos, Sarah | - |
Univ Fed Minas Gerais - Brasil
Universidade Federal de Minas Gerais - Brasil |