TANK-Binding Kinase 1 Mutation as a Rare Cause of Frontotemporal Dementia in a Mexican Patient: The First Case Report in a Tertiary Referral Hospital in Mexico.

Frontotemporal dementia (FTD) is a heterogeneous condition characterized by changes in behavior, personality, and language resulting from degeneration of the frontal and/or temporal lobes. A wide spectrum of clinical syndromes and an overlap with different motor disorders make this entity challenging for clinicians, both in achieving a correct diagnosis and providing proper treatment. Despite the majority of cases being sporadic, FTD has a hereditary component, and more than 10 disease-causing genes have been identified. We present the case of a Mexican patient with a positive family history of neurocognitive disorders who developed early-onset behavioral symptoms, cognitive alterations, and motor disturbances. After a comprehensive study and multiple assessments by various medical services, a molecular diagnosis was achieved by documenting a loss-of-function mutation in the TANK-binding kinase 1 (TBK1) gene, an extremely rare cause of FTD. Genetic diagnosis is crucial in these situations, as this mutation has been associated with rapid disease progression and the potential development of motor syndromes during its course. Our case underscores the challenges involved in reaching an accurate diagnosis, highlighting the importance of molecular testing. A thorough family history, past medical records, and a detailed description of symptom onset and progression are imperative, as they can significantly influence both treatment approaches and prognosis. Diagnostic errors, combined with their subsequent inappropriate treatment, can further deteriorate patients' quality of life.

Síntomas psiquiátricos de la parálisis supranuclear progresiva / Psychiatric Symptoms of Progressive Supranuclear Palsy

Introducción: Se presenta el caso de un paciente de 73 años, con diagnóstico de parálisis supranuclear progresiva (PSP), quien ingresa a la unidad de salud mental por presencia de síntomas psicóticos con poca respuesta al uso de antipsicóticos y medicación antiparkinsoniana. Objetivo: Revisar las principales alteraciones clínicas de los pacientes con este diagnóstico, las teorías etiopatológicas y las conductas que se deben seguir frente a esta entidad. Método: Reporte de caso. Desarrollo y conclusión: La PSP, aunque poco común, es de interés psiquiátrico, ya que cursa a menudo con síntomas psicóticos y es frecuentemente diagnosticada como una enfermedad psiquiátrica.

Introduction: This is a case report of a 73 year old man, with a diagnosis of progressive supranuclear palsy (PSP) who is admitted to a mental health unit with psychotic symptoms with little response to antipsychotic and antiparkinsonian medication. Objective: This case report emphasizes the clinical symptoms of patients with this diagnosis, the etiopathological theories and the most accurate treatment for this disease. Design: Case report. Development and conclusion: PSP, though rare, is of interest to psychiatry because of the common occurrence of psychiatric symptoms and the frequent misdiagnosis with psychiatric illness.