C9ORF72 G4C2-repeat expansion and frontotemporal dementia first reported case in Argentina

Suárez, Marcos Fernández; Surace, Ezequiel; Harris, Paula; Tapajoz, Fernanda; Sevlever, Gustavo; Allegri, Ricardo; Russo, G.

doi:10.1080/13554794.2016.1186700

Cited by 4 publications

(3 citation statements)

References 19 publications

(20 reference statements)

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“…However, there are family reports from various countries, including Brazil ( 91 , 92 ), Argentina ( 93 ), Uruguay ( 94 ), Cuba ( 95 ), Chile ( 96 ), and Caribbean origin families ( 97 ) ( Figure 4 ). Families carrying C9ORF72 have been described in Chile ( 96 ), Cuba ( 95 ), Brazil ( 98 , 99 ), and Argentina ( 100 , 101 ), presenting with a significant phenotypic heterogeneity (ALS vs. bvFTD vs. bvFTD-MND). Families featuring GRN pathogenic variants have been described in Brazil ( 91 , 92 ), Uruguay ( 94 ), Argentina ( 102 ), and the Caribbean ( 97 ).…”

Section: Resultsmentioning

confidence: 99%

Frontotemporal Dementias in Latin America: History, Epidemiology, Genetics, and Clinical Research

et al. 2021

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Introduction: The historical development, frequency, and impact of frontotemporal dementia (FTD) are less clear in Latin America than in high-income countries. Although there is a growing number of dementia studies in Latin America, little is known collectively about FTD prevalence studies by country, clinical heterogeneity, risk factors, and genetics in Latin American countries.Methods: A systematic review was completed, aimed at identifying the frequency, clinical heterogeneity, and genetics studies of FTD in Latin American populations. The search strategies used a combination of standardized terms for FTD and related disorders. In addition, at least one author per Latin American country summarized the available literature. Collaborative or regional studies were reviewed during consensus meetings.Results: The first FTD reports published in Latin America were mostly case reports. The last two decades marked a substantial increase in the number of FTD research in Latin American countries. Brazil (165), Argentina (84), Colombia (26), and Chile (23) are the countries with the larger numbers of FTD published studies. Most of the research has focused on clinical and neuropsychological features (n = 247), including the local adaptation of neuropsychological and behavioral assessment batteries. However, there are little to no large studies on prevalence (n = 4), biomarkers (n = 9), or neuropathology (n = 3) of FTD.Conclusions: Future FTD studies will be required in Latin America, albeit with a greater emphasis on clinical diagnosis, genetics, biomarkers, and neuropathological studies. Regional and country-level efforts should seek better estimations of the prevalence, incidence, and economic impact of FTD syndromes.

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Section: Resultsmentioning

confidence: 99%

Frontotemporal Dementias in Latin America: History, Epidemiology, Genetics, and Clinical Research

et al. 2021

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“…The first case of FTD due to C9orf72 G4C2 repeat expansion in Argentina was described in 2016. 14 It involved a 51-year-old proband who developed behavioral disorders (anxiety, aggressiveness due to feeling offended in public places, psychotic ideation, and delusions), followed by language difficulties and cognitive impairment for over 3 years. The psychotic symptoms, in addition to a family history of parkinsonism and ALS , made the clinicians suspect G4C2 hexanucleotide repeat expansion in C9ORF72 .…”

Section: Argentinamentioning

confidence: 99%

Genetics of dementia: insights from Latin America

Ramos

Aguillón

Cordano³

et al. 2020

Dement. neuropsychol.

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ABSTRACT. Alzheimer’s disease (AD) and frontotemporal dementia (FTD) are neurodegenerative disorders that result in a significant burden to both patients and caregivers. By 2050, the number of people with dementia in Latin America will increase 4-fold. A deep understanding of the relevant genetic factors of AD and FTD is fundamental to tackle this reality through prevention. A review of different genetic variants that cause AD or FTD in Latin America was conducted. We searched Medline and PubMed databases using the keywords “Alzheimer’s disease,” “frontotemporal dementia,” “mutation,” “America,” and “Latin America,” besides specific Latin American countries. Forty-five items were chosen and analyzed. PSEN1 mutations are the commonest cause of genetic early-onset Alzheimer’s disease (EOAD), followed by PSEN2 and APP mutations. Genetic FTD can be mainly explained by GRN and MAPT mutations, as well as C9orf72 G4C2 repeat expansion. APOE ε4 can modify the prevalence and incidence of late-onset Alzheimer’s disease (LOAD), in addition to the cognitive performance in affected carriers.

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“…In Chile, a case report of a family carrier of C9orf72 mutation affected by non-fluent aphasia leading to mutism and mild parkinsonism was described ( 46 ). In Argentina, the first case with FTD and C9orf72 mutation was reported in 2016 ( 42 ). A Brazilian kindred with FTD and FTD-ALS was reported in 2012, in which significant heterogeneity across different family members was seen and subtle behavioral changes were observed decades before a diagnosis of bvFTD was made ( 68 ).…”

Section: Resultsmentioning

confidence: 99%

Systematic Review: Genetic, Neuroimaging, and Fluids Biomarkers for Frontotemporal Dementia Across Latin America Countries

et al. 2021

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Frontotemporal dementia (FTD) includes a group of clinically, genetically, and pathologically heterogeneous neurodegenerative disorders, affecting the fronto-insular-temporal regions of the brain. Clinically, FTD is characterized by progressive deficits in behavior, executive function, and language and its diagnosis relies mainly on the clinical expertise of the physician/consensus group and the use of neuropsychological tests and/or structural/functional neuroimaging, depending on local availability. The modest correlation between clinical findings and FTD neuropathology makes the diagnosis difficult using clinical criteria and often leads to underdiagnosis or misdiagnosis, primarily due to lack of recognition or awareness of FTD as a disease and symptom overlap with psychiatric disorders. Despite advances in understanding the underlying neuropathology of FTD, accurate and sensitive diagnosis for this disease is still lacking. One of the major challenges is to improve diagnosis in FTD patients as early as possible. In this context, biomarkers have emerged as useful methods to provide and/or complement clinical diagnosis for this complex syndrome, although more evidence is needed to incorporate most of them into clinical practice. However, most biomarker studies have been performed using North American or European populations, with little representation of the Latin American and the Caribbean (LAC) region. In the LAC region, there are additional challenges, particularly the lack of awareness and knowledge about FTD, even in specialists. Also, LAC genetic heritage and cultures are complex, and both likely influence clinical presentations and may modify baseline biomarker levels. Even more, due to diagnostic delay, the clinical presentation might be further complicated by both neurological and psychiatric comorbidity, such as vascular brain damage, substance abuse, mood disorders, among others. This systematic review provides a brief update and an overview of the current knowledge on genetic, neuroimaging, and fluid biomarkers for FTD in LAC countries. Our review highlights the need for extensive research on biomarkers in FTD in LAC to contribute to a more comprehensive understanding of the disease and its associated biomarkers. Dementia research is certainly reduced in the LAC region, highlighting an urgent need for harmonized, innovative, and cross-regional studies with a global perspective across multiple areas of dementia knowledge.

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C9ORF72 G₄C₂-repeat expansion and frontotemporal dementia first reported case in Argentina

Cited by 4 publications

References 19 publications

Frontotemporal Dementias in Latin America: History, Epidemiology, Genetics, and Clinical Research

Frontotemporal Dementias in Latin America: History, Epidemiology, Genetics, and Clinical Research

Genetics of dementia: insights from Latin America

Systematic Review: Genetic, Neuroimaging, and Fluids Biomarkers for Frontotemporal Dementia Across Latin America Countries

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