RESUMEN
BACKGROUND: Although the association between mutations in GBA1 and parkinsonism is well established, most GBA1 mutation carriers never develop parkinsonism, implicating the contribution of other genetic, epigenetic, and/or environmental modifiers. OBJECTIVES: To identify factors predisposing to or offering protection from parkinsonism among siblings with Gaucher's disease) discordant for Parkinson disease (PD). METHODS: This prospective, longitudinal study included nine sib pairs with Gaucher disease, but discordant for PD. Assessments included neurological, neuropsychological, olfactory, motor, nonmotor evaluations, and transcranial sonography. Validated mood and nonmotor questionnaires assessed fatigue, olfactory dysfunction, sleepiness, sleep disturbances, anxiety, and/or depression. RESULTS: There was no relationship between Gaucher treatments, genotype, or splenectomy and PD. Male sex predominance, younger age, and milder Gaucher disease symptoms were observed among the patients with PD. Substantia nigral echogenicity, olfactory dysfunction, serum triglycerides levels, and 9-hole peg scores, but not caffeine, alcohol, or tobacco use, environmental exposures, uric acid, or glucose levels, differed significantly between groups. CONCLUSIONS: Longitudinal evaluation of discordant sib pairs may help identify PD risk factors. © 2019 International Parkinson and Movement Disorder Society.
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Enfermedad de Gaucher/genética , Glucosilceramidasa/genética , Trastornos Parkinsonianos/genética , Adulto , Femenino , Enfermedad de Gaucher/diagnóstico , Humanos , Estudios Longitudinales , Masculino , Persona de Mediana Edad , Mutación/genética , Trastornos Parkinsonianos/diagnóstico , Factores de Riesgo , HermanosRESUMEN
OBJECTIVE: Heroin dependence is associated with deficits in impulsivity, which is also a core feature of attention deficit hyperactivity disorder (ADHD). This study aimed to explore the association between childhood ADHD symptoms and cognitive and motor impulsivity among abstinent individuals with a history of heroin dependence. METHODS: Thirty-two abstinent Bulgarian males with a history of heroin dependence participated in the study. Self-rated childhood ADHD symptoms were obtained using the Wender-Utah Rating Scale. Cognitive impulsivity was measured using the Iowa Gambling Task (IGT), an index of impulsive decision making, and the Delayed Reward Discounting Task (DRDT), a measure of intertemporal choice. Motor impulsivity was indexed with the Stop Signal Task (SST), a measure of response inhibition. RESULTS: Participants, whose average age was 27.66 years (SD = 2.7), had an average ADHD symptom score of 36.6 (SD = 18.6), had roughly 7 years (SD = 2.9) of heroin use, and had been abstinent for just over a year (M = 402.5 days, SD = 223.8). Linear regression analyses revealed that self-reported ADHD symptoms predicted impulsive decision making (IGT), but not delayed discounting (DRDT) or response inhibition (SST). CONCLUSIONS: Self-reported childhood ADHD symptoms do not uniformly predict impulsivity among abstinent individuals with heroin dependence. Results suggest the IGT may be more sensitive to externalizing psychopathology among individuals with heroin dependence than other measures of impulsivity.
Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/psicología , Cognición/fisiología , Dependencia de Heroína/psicología , Conducta Impulsiva/fisiología , Inhibición Psicológica , Adulto , Toma de Decisiones/fisiología , Diagnóstico Dual (Psiquiatría) , Humanos , Masculino , Pruebas Neuropsicológicas , Adulto JovenRESUMEN
Objective:Our purpose was to determine whether Medical Symptom Validity Test (MSVT) profiles could differentiate performance invalidity from true impairment in patients with varying levels of memory impairment and functional ability being evaluated for Alzheimer's disease (AD). Method: Seventy-three older adults (13 healthy controls, 25 mild cognitive impairment [MCI], 16 mild AD, 19 moderate AD) were evaluated with a neuropsychological battery including the MSVT and activities of daily living (ADL) measures. Using MSVT classification guidelines, examinees' MSVT profiles were categorized as: 1) valid, 2) invalid, 3) weak memory, or 4) genuine memory impairment (GMIP). Results: Eighty-four percent of moderate AD examinees produced a GMIP. Among MCI and mild AD examinees, who had only modestly affected ADLs, a substantial proportion manifested a GMIP (40% and 62.5%, respectively). An invalid profile was uncommon across patient groups (12.5% in mild AD, 5.3% in moderate AD, and 0% in MCI). Conclusions: The MSVT functions reasonably well in a dementia sample to determine if an examinee has an invalid profile, although for mild AD examinees, the false positive rate is slightly above the recommended 10% cut-off. However, even individuals with MCI, mild AD and relative preservation of ADLs may manifest a GMIP, demonstrating that such profile is found across patients with lower and higher degrees of functional impairment. Given this finding, the usefulness of the GMIP in differentiating performance invalidity from true impairment in patients being evaluated for AD appears limited.
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Enfermedad de Alzheimer , Disfunción Cognitiva , Trastornos de la Memoria , Pruebas Neuropsicológicas , Actividades Cotidianas , Anciano , Enfermedad de Alzheimer/complicaciones , Enfermedad de Alzheimer/diagnóstico , Disfunción Cognitiva/diagnóstico , Disfunción Cognitiva/etiología , Humanos , Trastornos de la Memoria/diagnóstico , Trastornos de la Memoria/etiologíaRESUMEN
Twenty-seven previously healthy (of 36 consecutive eligible patients), HIV-negative cryptococcal meningoencephalitis (CM) patients underwent comprehensive neuropsychological evaluation during the late post-treatment period (1.3-4 years post diagnosis), assessing attention, language, learning, memory, visuospatial, executive function, information processing, psychomotor functioning, as well as mood symptoms. Seven of eight domains (all except attention) showed increased percentages of CM patients scoring in the less than 16th percentile range compared to standardized normative test averages, adjusted for education level and age. Comparison with a matched archival dataset of mild cognitive impairment/Alzheimer's disease patients showed that CM patients exhibited relative deficits in psychomotor and executive function with fewer deficits in memory and learning, consistent with a frontal-subcortical syndrome. MRI evaluation at the time of testing demonstrated an association of lower neuropsychological functioning with ventriculomegaly. These studies suggest that CM should be included in the list of treatable causes of dementia in neurological work ups. Future studies are needed to identify diagnostic and treatment regimens that may enhance neurological function after therapy.
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Trastornos del Conocimiento/diagnóstico , Cryptococcus neoformans/aislamiento & purificación , Lóbulo Frontal/fisiopatología , Meningitis Criptocócica/complicaciones , Meningoencefalitis/complicaciones , Adulto , Anciano , Anciano de 80 o más Años , Enfermedad de Alzheimer/complicaciones , Enfermedad de Alzheimer/fisiopatología , Antifúngicos/uso terapéutico , Trastornos del Conocimiento/etiología , Trastornos del Conocimiento/fisiopatología , Conjuntos de Datos como Asunto , Función Ejecutiva/fisiología , Femenino , Lóbulo Frontal/diagnóstico por imagen , Gliosis/diagnóstico , Gliosis/microbiología , Gliosis/fisiopatología , VIH-1/aislamiento & purificación , Humanos , Hidrocefalia/diagnóstico , Hidrocefalia/microbiología , Hidrocefalia/fisiopatología , Imagen por Resonancia Magnética , Masculino , Meningitis Criptocócica/tratamiento farmacológico , Meningitis Criptocócica/microbiología , Meningitis Criptocócica/fisiopatología , Meningoencefalitis/tratamiento farmacológico , Meningoencefalitis/microbiología , Meningoencefalitis/fisiopatología , Persona de Mediana Edad , Pruebas Neuropsicológicas/estadística & datos numéricos , Síndrome , Adulto JovenRESUMEN
BACKGROUND: Impulsivity is a hallmark characteristic of drug addiction and a prominent feature of externalizing disorders such as psychopathy that are commonly comorbid with drug addiction. In a previous study (Vassileva et al., 2007) we have shown that psychopathic heroin addicts evidence more impulsive decision-making on the Iowa Gambling Task relative to non-psychopathic heroin addicts. The goal of the current study was to investigate whether the observed impulse-control deficits in psychopathic heroin addicts would generalize to other neurocognitive domains of impulsivity, such as delay discounting and behavioral inhibition among a group of relatively "pure" heroin addicts in Bulgaria who participated in our previous study. METHODS: We tested 92 currently abstinent male heroin addicts, classified as psychopathic or non-psychopathic based on the Hare Psychopathy Checklist - Revised (PCL-R). We administered two neurocognitive tasks of impulsivity: (1) Delayed Rewards Discounting Task, a measure of temporal discounting of rewards; and (2) Passive Avoidance Learning Task, a measure of behavioral inhibition. RESULTS: Psychopathic heroin addicts were not impaired relative to non-psychopathic heroin addicts on the Delayed Rewards Discounting Task and the Passive Avoidance Learning Task, on the latter of which they showed better attentional capacity. CONCLUSIONS: These results indicate that psychopathic heroin users are not uniformly impaired across neurocognitive domains of impulsivity. Combined with our previous findings, results suggest that the presence of psychopathy may exacerbate decision-making deficits in psychopathic heroin addicts, but it may not have significant effect on other neurocognitive domains of impulsivity in this population.