RESUMEN
The target organs for familial transthyretin amyloidosis are typically the nerves, the heart or even the eyes due to the accumulation of amyloid deposits. Less frequently, these deposits can occur within the central nervous system and drive a specific phenotype of cerebral amyloid angiopathy. We report the case of a 72-year-old woman showing evidence of cerebral amyloid angiopathy, in a context of hereditary transthyretin amyloidosis (hATTR) due to p.(Ser77Tyr) mutation of the TTR gene. Her cognitive assessment on a two-year follow-up was remarkably steady. A very limited number of patients with hereditary transthyretin amyloidosis associated with a cerebral amyloid angiopathy have been reported. Few characteristics could distinguish them from classic cerebral amyloid angiopathy, and more data are needed to highlight specific features. Screening for peripheral neuropathy should be considered for patients referred to memory clinic for atypical cerebral amyloid angiopathy.
Asunto(s)
Neuropatías Amiloides Familiares , Angiopatía Amiloide Cerebral , Neuropatías Amiloides Familiares/complicaciones , Neuropatías Amiloides Familiares/diagnóstico , Neuropatías Amiloides Familiares/genética , Sistema Nervioso Central , Angiopatía Amiloide Cerebral/complicaciones , Angiopatía Amiloide Cerebral/genética , Femenino , Humanos , Prealbúmina/genéticaRESUMEN
Self-conscious emotions (SCEs) with a negative valence (such as shame and guilt) or a positive valence (such as pride) are moral emotions that emerge from self-reflection and self-evaluation processes in social contexts. In some neurologic and psychiatric disorders, experiences of SCEs are dysregulated. The objectives of the present study were to (i) evaluate whether patients with temporal lobe epilepsy (TLE) experience SCEs in the same way as nonclinical (control) participants and (ii) probe the relationships between experiences of SCEs on the one hand and the psychological symptoms frequently diagnosed in patients with TLE (anxiety and depression), the patients' clinical characteristics, and their functional outcomes in everyday life on the other. Sixty-one patients with TLE and 61 matched controls completed a self-questionnaire (the Positive and Negative Affect Schedule (PANAS)) that enabled us to evaluate the extent to which they experienced shame, guilt, and pride. Demographic data, cognitive data, the severity of anxiety symptoms, and the severity of depressive symptoms were recorded for all participants. In patients with TLE, data of clinical characteristics and quality of life were also evaluated. Relative to controls, patients with TLE were more likely to experience negative-valence SCEs to a higher extent and positive SCEs to a lesser extent. The patients who experienced negative-valence SCEs to a higher extent (rather than to a lesser extent) had a higher frequency of seizures, more severe anxiety and depressive symptoms, and a greater prevalence of anxiety and depressive disorders. Furthermore, patients who experienced positive-valence SCEs to a lesser extent (rather than to a higher extent) displayed a higher level of anxiety. Lastly, differences in experiences of SCEs by patients with TLE were associated with a lower quality of life. In conclusion, experiences of SCEs can be dysregulated in patients with TLE. This dysregulation is linked to the patients' clinical and psychological symptoms and quality of life. In this context, SCEs might be a target of interest in the management of epilepsy.
Asunto(s)
Síntomas Afectivos/fisiopatología , Trastornos de Ansiedad/fisiopatología , Trastorno Depresivo/fisiopatología , Epilepsia del Lóbulo Temporal/fisiopatología , Culpa , Autoimagen , Vergüenza , Adulto , Síntomas Afectivos/etiología , Epilepsia del Lóbulo Temporal/complicaciones , Femenino , Humanos , Masculino , Persona de Mediana EdadRESUMEN
BACKGROUND AND PURPOSE: Correlated with better follow-up of gliomas, cognitive disorders are increasingly studied. The aim of this study was to describe the cognitive disorders presented by these patients at baseline, before any treatment, and to evaluate the relations between cognitive disorders and return to work. METHODS: A detailed neuropsychological evaluation was administrated to 15 newly diagnosed patients with a grade II or III glial tumor before any treatment. Patients also completed the quality of life and depression scales. RESULTS: All patients in our study presented with at least one failed cognitive domain during the detailed examination, while the scores on the MMSE scale were within the norm. The most deteriorated functions were divided attention and episodic verbal and nonverbal memory. Moreover, a significant link was found between the number of failed cognitive functions and quality of life. CONCLUSION: Cognitive disorders are frequent with glial tumors and impact patients' quality of life. Simple tests of global cognitive status are not sufficient to detect cognitive difficulties in these patients. Consequently, detailed and adapted neuropsychological assessment is necessary, especially to detect deteriorated problems with memory, divided attention, or processing speed in this population.
Asunto(s)
Trastornos del Conocimiento/etiología , Glioma/psicología , Adulto , Atención , Neoplasias Encefálicas/patología , Neoplasias Encefálicas/psicología , Femenino , Lateralidad Funcional , Glioma/patología , Humanos , Masculino , Trastornos de la Memoria/etiología , Persona de Mediana Edad , Pruebas Neuropsicológicas , Calidad de Vida , Encuestas y Cuestionarios , Adulto JovenRESUMEN
In Alzheimer's disease (AD), loss of connectivity in the patient's brain has been evidenced by a range of electrophysiological and neuroimaging studies. However, few neuropsychological research projects have sought to interpret the cognitive modifications following the appearance of AD in terms of a disconnection syndrome. In this paper, we sought to investigate brain connectivity in AD via the study of a crossmodal effect. More precisely, we examined the integration of auditory and visual speech information (the McGurk effect) in AD patients and matched control subjects. Our results revealed impaired crossmodal integration during speech perception in AD, which was not associated with disturbances in the separate processing of auditory and visual speech stimuli. In conclusion, our data suggest the occurrence of a specific, audio-visual integration deficit in AD, which might be the consequence of a connectivity breakdown and corroborate the observation from other studies of crossmodal deficits between the auditory and visual modalities in this population.
Asunto(s)
Enfermedad de Alzheimer/complicaciones , Ilusiones/fisiología , Trastornos de la Percepción/etiología , Percepción del Habla/fisiología , Estimulación Acústica/métodos , Anciano , Anciano de 80 o más Años , Análisis de Varianza , Estudios de Casos y Controles , Discriminación en Psicología/fisiología , Femenino , Humanos , Lectura de los Labios , Masculino , Persona de Mediana Edad , Pruebas Neuropsicológicas , Estimulación Luminosa/métodosRESUMEN
This paper reviews the growing amount of evidence supporting the hypothesis that Alzheimer's disease includes a disconnection syndrome. This evidence came mainly from neuropathological, electrophysiological, and neuroimaging studies. Moreover, a few recent neuropsychological studies have also explored the effects of a disconnection between cerebral areas on cognitive functioning. Finally, and more generally, the contribution of this interpretation to the understanding of Alzheimer's disease cognitive deficits is considered.
Asunto(s)
Enfermedad de Alzheimer/patología , Corteza Cerebral/patología , Dominancia Cerebral/fisiología , Vías Nerviosas/patología , Enfermedad de Alzheimer/fisiopatología , Enfermedad de Alzheimer/psicología , Mapeo Encefálico , Corteza Cerebral/fisiopatología , Diagnóstico por Imagen , Humanos , Vías Nerviosas/fisiopatología , Ovillos Neurofibrilares/patología , Pruebas Neuropsicológicas , Placa Amiloide/patologíaRESUMEN
A new diagnostic indicator of FDG PET scan abnormality, based on age-adjusted t statistics and an automated voxel-based procedure, is presented and validated in a large data set comprising 110 normal controls and 395 patients with probable Alzheimer's disease (AD) that were studied in eight participating centers. The effect of differences in spatial resolution of PET scanners was minimized effectively by filtering and masking. In controls FDG uptake declined significantly with age in anterior cingulate and frontolateral perisylvian cortex. In patients with probable AD decline of FDG uptake in posterior cingulate, temporoparietal, and prefrontal association cortex was related to dementia severity. These effects were clearly distinct from age effects in controls, suggesting that the disease process of AD is not related to normal aging. Women with probable AD had significantly more frontal metabolic impairment than men. The new indicator of metabolic abnormality in AD-related regions provided 93% sensitivity and specificity for distinction of mild to moderate probable AD from normals, and 84% sensitivity at 93% specificity for detection of very mild probable AD (defined by Mini Mental Score 24 or better). All regions related to AD severity were already affected in very mild AD, suggesting that all vulnerable areas are affected to a similar degree already at disease onset. Ventromedial frontal cortex was also abnormal. In conclusion, automated analysis of multicenter FDG PET is feasible, provides insights into AD pathophysiology, and can be used potentially as a sensitive biomarker for early AD diagnosis.
Asunto(s)
Enfermedad de Alzheimer/diagnóstico por imagen , Fluorodesoxiglucosa F18 , Radiofármacos , Anciano , Envejecimiento/fisiología , Enfermedad de Alzheimer/psicología , Mapeo Encefálico , Bases de Datos Factuales , Femenino , Humanos , Interpretación de Imagen Asistida por Computador , Masculino , Pruebas Neuropsicológicas , Cintigrafía , Valores de Referencia , Análisis de RegresiónRESUMEN
The hypothesis that sleep participates in the consolidation of recent memory traces has been investigated using four main paradigms: (1) effects of post-training sleep deprivation on memory consolidation, (2) effects of learning on post-training sleep, (3) effects of within sleep stimulation on the sleep pattern and on overnight memories, and (4) re-expression of behavior-specific neural patterns during post-training sleep. These studies convincingly support the idea that sleep is deeply involved in memory functions in humans and animals. However, the available data still remain too scarce to confirm or reject unequivocally the recently upheld hypothesis that consolidations of non-declarative and declarative memories are respectively dependent upon REM and NREM sleep processes.
Asunto(s)
Encéfalo/fisiología , Aprendizaje/fisiología , Memoria/fisiología , Sueño/fisiología , Animales , Condicionamiento Psicológico/fisiología , HumanosRESUMEN
Although rapid eye movements (REMs) are a prominent feature of paradoxical sleep (PS), their origin and functional significance remain poorly understood in humans. In animals, including nonhuman primates, REMs during PS are closely related to the occurrence of the so-called PGO waves, i.e., prominent phasic activities recorded throughout the brain but predominantly and most easily in the pons (P), the lateral geniculate bodies (G), and the occipital cortex (O). Therefore, and because the evolution of species is parsimonious, a plausible hypothesis would be that during PS in humans, REMs are generated by mechanisms similar to PGO waves. Using positron emission tomography and iterative cerebral blood flow measurements by H(2)(15)O infusions, we predicted that the brain regions where the PGO waves are the most easily recorded in animals would be differentially more active in PS than in wakefulness, in relation with the density of the REM production [i.e., we looked for the condition (PS versus wakefulness) by performance (REM density) interaction]. Accordingly, we found a significant interaction effect in the right geniculate body and in the primary occipital cortex. The result supports the hypothesis of the existence of processes similar to PGO waves in humans, responsible for REM generation. The interest in the presence of PGO waves in humans is outstanding because the cellular processes involved in, or triggered by, PGO waves might favor brain plasticity during PS.