RESUMO
Psychotic symptoms can manifest at any age, but in the elderly they represent a real diagnostic challenge. Thought disorders, hallucinations (usually visual), mood disorders with delusions, impairment of social interaction and occasionally verbal or physical aggression may be observed (Karon & VandenBos, 1998). Since the first descriptions of classical psychiatry, attempts have been made to define the psychoses observed in the elderly and determine whether they are primary "psychiatric" syndromes or, conversely, whether they can be attributed to other pathologies. Thus, different concepts have emerged, such as Late Onset Psychosis or Late-Onset Schizophrenia, Very Late-Onset Psychosis or Very Late-Onset Schizophrenia-Like Psychosis VLOSL), Late-Life Psychosis, etc.
Los síntomas psicóticos pueden manifestarse a cualquier edad, pero en las personas mayores representan un verdadero desafío diagnóstico. Pueden observarse trastornos del pensamiento, alucinaciones (usualmente visuales), trastornos del estado de ánimo con ideas delirantes, trastornos en la interacción social y ocasionalmente agresividad verbal o física (Karon & VandenBos, 1998). Desde las primeras descripciones de la psiquiatría clásica se ha intentado definir a las psicosis observadas en las personas mayores y determinar si se trata de síndromes "psiquiátricos" primarios o, por el contrario, si se los puede atribuir a otras patologías. Así, han surgido diferentes conceptos, como psicosis de comienzo tardío (Late Onset Psychosis) o esquizofrenia de comienzo tardío (Late-Onset Schizophrenia - LOS), psicosis de comienzo muy tardío (Very Late-Onset Psychosis)o psicosis esquizofreniforme de comienzo muy tardío (very late-onset schizophrenia-like psychosis - VLOSL), psicosis de la vida avanzada (Late-Life Psychosis), etc.
Assuntos
Transtornos Psicóticos , Humanos , Estudos RetrospectivosRESUMO
INTRODUCTION: There are reports of different clinical statuses in carriers of intermediate alleles (IAs) of CAG trinucleotide repeats in the HTT gene, from individuals affected by a clinical picture indistinguishable from Huntington's disease (HD) to those without manifestations. Therefore, the possible clinical significance of these alleles has been widely debated. OBJECTIVES: The aim of this study was to describe general and clinical features and discard HD phenocopies by molecular assessment in a case series of IA carriers on the HTT gene of a laboratory sample from a neurological center in Mexico. METHODS: We selected individuals who had previously been tested for the HTT gene expansion, which resulted in IAs. Clinical information was obtained from medical records, and molecular analysis of the JPH3, PRNP, and TBP genes was performed only in IA carriers with clinical manifestations. In addition, two patients with IA and acanthocytes were evaluated by whole-exome sequencing. The scientific and ethical committees of the National Institute of Neurology and Neurosurgery Manuel Velasco Suárez (NINNMVS) approved this study. RESULTS: From 1994 to 2019, the Genetics Department of the NINNMVS confirmed 34 individuals with IAs, 15 of whom belonged to 11 families with HD (IA-HD) and 19 of whom had no family history of HD (IA-non-HD). We found a high proportion of manifestations of the HD phenotypic spectrum in the IA-non-HD subgroup. In addition, among the 20 samples of IA carriers with manifestations molecularly evaluated, we identified two unrelated subjects with CAG/CTG repeat expansions on the JPH3 gene, confirming HD-like 2 (HDL2), and one patient with the homozygous pathogenic c.3232G>T variant (p.Glu1078Ter) in the VPS13A gene, demonstrating choreoacanthocytosis. DISCUSSION/CONCLUSION: Our results show the most extensive series of subjects with IAs and clinical manifestations. In addition, we identify three HD phenocopies, two HDL2 cases, and one choreoacanthocytosis case. Therefore, we emphasize evaluating other HD phenocopies in IA carriers with clinical manifestations whose family background is not associated with HD.