https://repositorio.fleni.org.ar/xmlui/handle/123456789/76 2026-06-26T21:27:42Z https://repositorio.fleni.org.ar/xmlui/handle/123456789/1505 Frontotemporal dementia: Clinical aspects, genetics, and neuropathology of a family with a C9ORF72 expansion in Argentina Román, Karen Daniela; Ardohain, Carolina Agata; Surace, Ezequiel Ignacio; Mezmezian, Mónica Beatriz; Levy, Alejandro; Baez Lovera, Alice; Turizo, Carlos; Sorbara, Marcos G.; Esnaola y Rojas, María M.; Graviotto, Gastón H.; Sevlever, Gustavo Emilio; Allegri, Ricardo Francisco; Serrano, Cecilia M.; Magrath Guimet, Nahuel Frontotemporal dementia (FTD) is the second most common cause of early-onset dementia, typically manifesting before the age of 65, with a mean onset at 58 years. FTD may encompass a spectrum of neurodegenerative disorders resulting from frontotemporal lobar degeneration (FTLD), affecting behavior, language, and motor function. Among its clinical variants, the behavioral variant (bvFTD) is the most frequently inherited, often associated with mutations in MAPT, GRN, and C9ORF72, the latter being the most prevalent genetic cause of FTD and FTD-motor neuron disease (FTD-MND). While bvFTD is classically defined by profound behavioral changes and executive dysfunction, cases linked to C9ORF72 expansions exhibit atypical neuropsychiatric features. This study documents two cases within the same family presenting with bvFTD and atypical parkinsonism, associated with a C9ORF72 expansion. Neurocognitive assessments, genetic testing, and neuroimaging (MRI, SPECT) were performed to characterize the clinical phenotype. A detailed review of the familial aggregation of neurodegenerative and psychiatric disorders provided further insight into the genetic contributions to symptomatology. The findings highlight the phenotypic heterogeneity associated with C9ORF72 expansions, demonstrating a spectrum ranging from bvFTD to atypical parkinsonism, with variable neuropsychiatric involvement. While movement disorders in FTD have historically been underestimated, these cases reinforce the association between parkinsonism and familial bvFTD. Given the limited epidemiological data on genetic FTD in Latin America, this study underscores the importance of genetic testing in cases with prominent behavioral and psychiatric symptoms, supporting early identification and genetic counseling for affected families. 2026-01-07T00:00:00Z https://repositorio.fleni.org.ar/xmlui/handle/123456789/1501 Editorial: Eating disorders and eating disorder awareness Vintila, Mona; Goian, Cosmin; Soneira, Sebastián Resumen no disponible 2026-01-15T00:00:00Z https://repositorio.fleni.org.ar/xmlui/handle/123456789/1499 Sebastián Ameriso: la razón al servicio de la vida Sevlever, Gustavo Emilio Resumen no disponible 2025-01-01T00:00:00Z https://repositorio.fleni.org.ar/xmlui/handle/123456789/1496 Signo del corazón roto Bolívar-Areiza, Juan; Gómez, Rodrigo; Núñez, Antony; Hernández Pinzón, Jairo El signo del corazón roto es una manifestación radiológica específica que indica una desarticulación entre la cabeza del martillo (malleus) con respecto al cuerpo y el proceso corto del yunque (incus)1. Es un hallazgo nominado de esta manera de forma relativamente reciente en el ámbito de la radiología, pero pese a su escasa literatura, algunos estudios, como el realizado por Meriot et al.2 en 1997, han identificado y clasificado las lesiones de la cadena osicular, incluyendo la desarticulación incudomaleolar con tal nombre. Este signo se ha observado en pacientes que han sufrido trauma craneoencefálico, incluyendo golpes directos en la región temporal, parietal u occipital, así como la inserción de cuerpos extraños dentro del canal auditivo externo; o de forma no tan común, a raíz de malformaciones congénitas del oído medio que afectan directamente las estructuras de sostén de la articulación3. 2025-06-23T00:00:00Z