Commentary to medical genetics and genomic medicine in Chile: Chilean experience on molecular diagnosis for neurodegenerative disorders

Miranda, Marcelo; Bustamante, M. Leonor

doi:10.1002/mgg3.288

Cited by 3 publications

(4 citation statements)

References 9 publications

(10 reference statements)

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“…This disparity in research can also indicate that many Latin American patients do not receive adequate diagnosis, counseling, and treatment, which also limits our capacity to better understand disease mechanisms and modifiers. Likely underlying reasons include limited funding for genetic testing and research, 118–120 lack of knowledge of health professionals, 121–123 and the perception of a lower clinical utility of genetic testing by clinicians 124 …”

Section: Discussionmentioning

confidence: 99%

“…Likely underlying reasons include limited funding for genetic testing and research, [118][119][120] lack of knowledge of health professionals, [121][122][123] and the perception of a lower clinical utility of genetic testing by clinicians. 124 Understanding the frequency and distribution of monogenic parkinsonism is crucial for the development of clinical trials and targeted medicine. Although previous studies have suggested a worldwide prevalence of $3% to 5%, or up to 10%, the source of these estimates is unclear.…”

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confidence: 99%

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Frequency of Hereditary and GBA1‐Related Parkinsonism in Latin America: A Systematic Review and Meta‐Analysis

Saffie Awad,

Teixeira‐dos‐Santos,

Santos‐Lobato

et al. 2023

Movement Disorders

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BackgroundIdentifying hereditary parkinsonism is valuable for diagnosis, genetic counseling, patient prioritization in trials, and studying the disease for personalized therapies. However, most studies were conducted in Europeans, and limited data exist on admixed populations like those from Latin America.ObjectivesThis study aims to assess the frequency and distribution of genetic parkinsonism in Latin America.MethodsWe conducted a systematic review and meta‐analysis of the frequency of parkinsonian syndromes associated with genetic pathogenic variants in Latin America. We defined hereditary parkinsonism as those caused by the genes outlined by the MDS Nomenclature of Genetic Movement Disorders and heterozygous carriers of GBA1 pathogenic variants. A systematic search was conducted in PubMed, Web of Science, Embase, and LILACS in August 2022. Researchers reviewed titles and abstracts, and disagreements were resolved by a third researcher. After this screening, five researchers reanalyzed the selection criteria and extracted information based on the full paper. The frequency for each parkinsonism‐related gene was determined by the presence of pathogenic/likely pathogenic variants among screened patients. Cochran's Q and I2 tests were used to quantify heterogeneity. Meta‐regression, publication bias tests, and sensitivity analysis regarding study quality were also used for LRRK2‐, PRKN‐, and GBA1‐related papers.ResultsWe included 73 studies involving 3014 screened studies from 16 countries. Among 7668 Latin American patients, pathogenic variants were found in 19 different genes. The frequency of the pathogenic variants in LRRK2 was 1.38% (95% confidence interval [CI]: 0.52–2.57), PRKN was 1.16% (95% CI: 0.08–3.05), and GBA1 was 4.17% (95% CI: 2.57–6.08). For all meta‐analysis, heterogeneity was high and publication bias tests were negative, except for PRKN, which was contradictory. Information on the number of pathogenic variants in the other genes is further presented in the text.ConclusionsThis study provides insights into hereditary and GBA1‐related parkinsonism in Latin America. Lower GBA1 frequencies compared to European/North American cohorts may result from limited access to gene sequencing. Further research is vital for regional prevalence understanding, enabling personalized care and therapies. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

Frequency of Hereditary and GBA1‐Related Parkinsonism in Latin America: A Systematic Review and Meta‐Analysis

Saffie Awad,

Teixeira‐dos‐Santos,

Santos‐Lobato

et al. 2023

Movement Disorders

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“…Actualmente, las posibilidades de acceso a tecnologías de diagnóstico molecular para nuestros especialistas chilenos están creciendo 13 , por lo que el conocimiento sobre las bases genéticas de estas enfermedades debe ser una prioridad para nuestros especialistas Agradecimientos: agradecemos la evaluación inicial del caso índice realizada por Dras. Patricia Lillo y Andrea Slachevsky.…”

Section: Genética De Dft Y Ela Mecanismos De Daño Por Expansión De Hunclassified

Expansión anormal de hexanucleótido en gen C9orf72 en una familia con demencia frontotemporal y cuadros asociados

2017

Rev. méd. Chile

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“…Since 2006, a molecular genetic study has been accessible in our country, which allows confirmation of the homozygous SMN1 deletion in patients suspected of having SMA 11,12 . Despite this development, in Chile there are still unmet needs in the field of molecular testing for the diagnosis of genetic conditions, with a paucity of laboratories and resources required to perform molecular genetic analyses 13 .…”

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confidence: 99%

Observations from a nationwide vigilance program in medical care for spinal muscular atrophy patients in Chile

Suárez

Palomino

Hervias

et al. 2019

Arq. Neuro-Psiquiatr.

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Spinal muscular atrophy (SMA) has gained much attention in the last few years because of the approval of the first intrathecal treatment for this neurodegenerative disease. Latin America needs to develop the demographics of SMA, timely access to diagnosis, and appropriate following of the standards of care recommendations for patients. These are essential steps to guide health policies. Methods: This was a descriptive study of a cohort of SMA patients from all over Chile. We analyzed the clinical, motor functional, and social data, as well as the care status of nutritional, respiratory and skeletal conditions. We also measured the SMN2 copy number in this population. Results: We recruited 92 patients: 50 male; 23 SMA type-1, 36 SMA type-2 and 33 SMA type-3. The median age at genetic diagnosis was 5, 24 and 132 months. We evaluated the SMN2 copy number in 57 patients. The SMA type-1 patients were tracheostomized and fed by gastrostomy in a 69.6 % of cases, 65% of SMA type-2 patients received nocturnal noninvasive ventilation, and 37% of the whole cohort underwent scoliosis surgery. Conclusion: Ventilatory care for SMA type-1 is still based mainly on tracheostomy. This Chilean cohort of SMA patients had timely access to genetic diagnosis, ventilatory assistance, nutritional support, and scoliosis surgery. In this series, SMA type-1 is underrepresented, probably due to restrictions in access to early diagnosis and the high and early mortality rate. RESUMÉNLa Atrofia Muscular Espinal (AME) ha concitado mucha atención en los últimos 2 años debido a la aprobación del primer tratamiento intratecal para esta enfermedad neurodegenerativa. América Latina necesita desarrollar la demografía de AME, un acceso oportuno al diagnóstico y un seguimiento apropiado de los pacientes que incorporen los estándares de atención recomendados por expertos. Estos son pasos esenciales para orientar las futuras políticas de salud en esta enfermedad. Métodos: Este es un estudio descriptivo de una cohorte de pacientes con AME de todo el país. Se analizaron los datos clínicos, motores, funcionales, sociales y el estado nutricional, respiratorio y esquelético de los pacientes. También medimos el número de copias del gen SMN2 en esta población. Resultados: se reclutaron 92 pacientes, 50 varones; 23 AME tipo 1, 36 AME tipo 2 y 33 AME tipo 3. La edad media al diagnóstico genético fue de 5, 24 y 132 meses respectivamente. Evaluamos el número de copias de SMN2 en 57 pacientes. Un 69,6% de los pacientes con AME tipo 1 estaban traqueostomízados y gastrostomizados , un 65% de los pacientes con AME tipo 2 usaban ventilación nocturna no invasiva y el 37% de toda la cohorte presentaba una cirugía de escoliosis. Conclusión: Esta cohorte chilena de pacientes con AME tuvo acceso oportuno al diagnóstico genético, asistencia ventilatoria, apoyo nutricional y cirugía de escoliosis, sin embargo, la atención ventilatoria para AME tipo 1 continúa aun basándose principalmente en la traqueostomía. En esta serie, AME tipo 1 está subrepresentada, probablemente debido a...

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Commentary to medical genetics and genomic medicine in Chile: Chilean experience on molecular diagnosis for neurodegenerative disorders

Abstract: In this article, the experience in the molecular diagnosis in neurodegenerative disorders in Chile, including present challenges and potential new pathways for development, is explained.

Cited by 3 publications

References 9 publications

Frequency of Hereditary and GBA1‐Related Parkinsonism in Latin America: A Systematic Review and Meta‐Analysis

Frequency of Hereditary and GBA1‐Related Parkinsonism in Latin America: A Systematic Review and Meta‐Analysis

Expansión anormal de hexanucleótido en gen C9orf72 en una familia con demencia frontotemporal y cuadros asociados

Observations from a nationwide vigilance program in medical care for spinal muscular atrophy patients in Chile

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