RESUMO
Atrophy of the medial temporal lobe of the brain is key to memory function and memory complaints in old age. While age and some morbidities are major risk factors for medial temporal lobe atrophy, individual differences remain, and mechanisms are insufficiently known. The largest combined neuroimaging and whole genome study to date indicates that medial temporal lobe volume is most associated with common polymorphisms in the GRIN2B gene that encodes for the 2B subunit (NR2B) of the NMDA receptor. Because sleep disruption induces a selective loss of NR2B from hippocampal synaptic membranes in rodents, and because of several other reports on medial temporal lobe sensitivity to sleep disruption, we hypothesized a contribution of the typical age-related increase in sleep-wake rhythm fragmentation to medial temporal lobe atrophy. Magnetic resonance imaging and actigraphy in 138 aged individuals showed that individual differences in sleep-wake rhythm fragmentation accounted for more (19%) of the variance in medial temporal lobe atrophy than age did (15%), or any of a list of health and brain structural indicators. The findings suggest a role of sleep-wake rhythm fragmentation in age-related medial temporal lobe atrophy, that might in part be prevented or reversible.
Assuntos
Envelhecimento , Transtornos Cronobiológicos , Privação do Sono , Lobo Temporal , Actigrafia , Idoso , Envelhecimento/patologia , Envelhecimento/fisiologia , Atrofia/diagnóstico por imagem , Atrofia/patologia , Transtornos Cronobiológicos/patologia , Transtornos Cronobiológicos/fisiopatologia , Feminino , Humanos , Individualidade , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Privação do Sono/patologia , Privação do Sono/fisiopatologia , Lobo Temporal/diagnóstico por imagem , Lobo Temporal/patologiaRESUMO
BACKGROUND: Compulsive movements, complex tics and stereotypies are frequent, especially among patients with autism or psychomotor retardation. These movements can be difficult to characterize and can mimic other conditions like epileptic seizures or paroxysmal dystonia, particularly when abnormal breathing and cerebral hypoxia are induced. CASE PRESENTATION: We describe an 18-year-old patient with Asperger syndrome who presented with attacks of tonic posturing of the trunk and neck. The attacks consisted of self-induced stereotypic stretching of the neck combined with a compulsive Valsalva-like maneuver. This induced cerebral hypoperfusion and subsequently dysautonomia and some involuntary movements of the arms. CONCLUSION: This patient suffered from a complex tic with compulsive respiratory stereotypies. His symptoms contain aspects of a phenomenon described in early literature as 'the fainting lark'.
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INTRODUCTION: The aim of this study was to systematically investigate the prevalence of psychiatric disorders and factors influencing health-related quality of life (HR-QoL) in cervical dystonia (CD) patients, in the context of objective dystonia motor severity. METHODS: We studied 50 CD patients and 50 matched healthy controls. Psychiatric assessment included the MINI-PLUS interview and quantitative questionnaires. Dystonia motor severity (based on video evaluation), pain and disability were determined with the TWSTRS rating scale. In addition, severity of tremor and jerks was evaluated with the 7-point CGI-S scale. HR-QoL was determined with the RAND-36 item Health Survey and predictors of HR-QoL were assessed using multiple regression analysis. RESULTS: In CD patients, the MINI-PLUS revealed a significantly higher prevalence of psychiatric disorders (64% vs. 28%, p = 0.001), with substantially more depression (32% vs. 14%) and anxiety disorders (42% vs. 8%). This was confirmed by the quantitative rating scales. Disease characteristics did not differ between patients with and without a psychiatric diagnosis. HR-QoL in dystonia patients was significantly lowered. The most important predictors of HR-QoL appeared severity of depressive symptoms, pain and disability, but not severity of motor symptoms. CONCLUSION: Psychiatric co-morbidity is highly prevalent and is an important predictor of HR-QoL in CD patients, rather than dystonia motor severity. Our findings support the theory of a shared neurobiology for motor and non-motor features and highlight the need for systematic research into psychiatric disorders in dystonia. Adequate treatment of psychiatric symptoms could significantly contribute to better overall quality of life of CD patients.
Assuntos
Transtornos de Ansiedade/epidemiologia , Depressão/epidemiologia , Distúrbios Distônicos/epidemiologia , Qualidade de Vida/psicologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Comorbidade , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Índice de Gravidade de Doença , Inquéritos e Questionários , Adulto JovemRESUMO
OBJECTIVES: To assess the prevalence of (risk of) undernutrition in Dutch elder Parkinson's disease patients as well as it's risk factors. DESIGN: Observational cross-sectional study. SETTING: An outpatient clinic at the department Neurology of Medical Centre Leeuwarden, a large teaching hospital. PARTICIPANTS: 102 outpatients with Parkinson's disease aged 65 years and older were recruited. MEASUREMENTS: Data regarding various aspects of undernutrition including socio-demographic aspect, disease characterisitics, nutritional status, appetite and overall-physical and psychological functioning were collected. RESULTS: Undernutrition was diagnosed in 2.0% and 20.5% of the patients were categorized as being at risk of undernutrition. Care dependency and appetite were the two risk factors with the highest predictive value for an unfavorable nutritional status. CONCLUSION: Of Dutch elderly patients with Parkinson's Disease 22.5% had an unfavourable nutritional status. Dependency and appetite were the two risk factors with the highest predictive value fort his outcome. Because undernutrition can be regarded as a geriatric syndrome a comprehensive nutritional assessment should be done followed by nutritional interventions next to interventions focused on the risk factors. Further studies are needed to evaluate these interventions.
Assuntos
Avaliação Geriátrica , Desnutrição/epidemiologia , Estado Nutricional , Doença de Parkinson/epidemiologia , Idoso , Idoso de 80 Anos ou mais , Apetite , Estudos Transversais , Dependência Psicológica , Feminino , Hospitais de Ensino , Humanos , Masculino , Desnutrição/diagnóstico , Países Baixos/epidemiologia , Avaliação Nutricional , Doença de Parkinson/fisiopatologia , Doença de Parkinson/psicologia , Prevalência , Fatores de RiscoRESUMO
In most genetic iron overload disorders the diagnosis can be rejected when transferrin saturation is low. We describe a patient and her family with hyperferritinaemia and low transferrin saturation with iron accumulation in the central nervous system (CNS) and liver due to hereditary aceruloplasminaemia. In this rare genetic iron overload disorder oxidation of iron is disturbed, resulting in storage of iron in the CNS and visceral organs.
Assuntos
Encéfalo/patologia , Ceruloplasmina/genética , Sobrecarga de Ferro/genética , Gânglios da Base/patologia , Ceruloplasmina/análise , Ceruloplasmina/deficiência , Feminino , Humanos , Distúrbios do Metabolismo do Ferro/diagnóstico , Distúrbios do Metabolismo do Ferro/genética , Sobrecarga de Ferro/complicações , Sobrecarga de Ferro/diagnóstico , Fígado/metabolismo , Fígado/patologia , Pessoa de Meia-Idade , Mutação , Doenças Neurodegenerativas/diagnóstico , Doenças Neurodegenerativas/genética , Transferrina/análiseRESUMO
Distortions in the rest-activity rhythm in aging are commonly observed. Neurodegenerative changes of the suprachiasmatic nucleus have been proposed to underlie this disrupted rhythm. However, based on previous studies, it can be proposed that white matter hyperintensities (WMH) may also play a role in the altered rest-activity rhythm in aging. The present study focused on the rest-activity rhythm, as assessed with actigraphy, and WMH in nondemented aging. With regard to the rest-activity rhythm, the interdaily stability (IS), intradaily variability (IV) and the amplitude (AMP) of the rhythm were of interest. The white matter hyperintensities were examined separately for the periventricular (PVH) and deep white matter (DWMH) regions, while distinguishing between the various locations within these regions (e.g. occipital PVH). The results indicated that frontal DWMH related to both IS and AMP. A reduction in the most active 10-h period mediated the relationship between frontal DWMH and AMP. Possible underlying mechanisms of these associations are discussed.
Assuntos
Envelhecimento/patologia , Envelhecimento/fisiologia , Atividade Motora/fisiologia , Fibras Nervosas Mielinizadas/ultraestrutura , Periodicidade , Descanso/fisiologia , Adaptação Fisiológica , Idoso , Feminino , Humanos , Masculino , Estatística como AssuntoRESUMO
OBJECTIVE: The event-related potential (ERP) evoked by the auditory oddball paradigm has been investigated mainly in patients with Alzheimer's disease and in patients with different causes of subcortical dementia. Subcortical ischemic vascular disease (SIVD) seems to be an important cause of vascular cognitive impairment (VCI) frequently not fulfilling the criteria for dementia. Recognition of VCI is needed in order to provide adequate care and therapy. The aim of this study was to investigate the diagnostic value of the different elements of this response (N(1), N(2) complex and P(3) latencies) in a group of elderly patients with VCI caused by SIVD. METHODS: The study population consisted of patients with a clinical and neuropsychological diagnosis of VCI caused by SIVD (n = 38) and healthy control subjects (n = 53) aged 60 years or older. The mean Mini Mental State Examination score of both groups was 27.6, and the mean HIV Dementia Scale score was 6.1 in the patient group and 12.3 in the control group. In all subjects, the ERP was recorded under standardized conditions, and the latencies and amplitudes of N(1), N(2) and P(3) were analyzed by two clinical neurophysiologists in consensus. Both were blinded to the diagnosis. RESULTS: The N(2) latency was significantly longer in patients with VCI than in age-matched controls, whereas the latencies of the P(3) and N(1) were not significantly different. The peak-to-peak amplitude of the N(2) complex to the P(3) wave was significantly lower in the patient group. White matter abnormalities on MRI were not significantly correlated with the N(2) latency. CONCLUSION: Our findings suggest that the latency of the N(2) complex is prolonged and the peak-to-peak amplitude of the N(2) complex to the P(3) wave is lowered in patients with VCI caused by SIVD.
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Encéfalo/irrigação sanguínea , Transtornos Cognitivos/diagnóstico , Transtornos Cognitivos/epidemiologia , Demência Vascular/epidemiologia , Demência Vascular/fisiopatologia , Potenciais Evocados Auditivos/fisiologia , Idoso , Circulação Cerebrovascular/fisiologia , Eletroencefalografia , Feminino , Humanos , Masculino , Testes Neuropsicológicos , Índice de Gravidade de Doença , Fatores de TempoRESUMO
OBJECTIVES: The most common familial early onset dementia mutations are found in the genes involved in Alzheimer's disease; the amyloid precursor protein (APP) and the presenilin 1 and 2 (PSEN1 and 2) genes; the prion protein gene (PRNP) may be involved. METHODS: Following identification of a two-octapeptide repeat insertion in PRNP, we conducted a meta-analysis to investigate the relation of number of PRNP octapeptide repeats with age at disease onset and duration of illness; identifying 55 patients with PRNP octapeptide repeat insertions. We used a linear mixed effects model to assess the relation of number of repeats with age at disease onset, and studied the effect of the number of inserted octapeptide repeats on disease duration with a Cox proportional hazards regression analysis. RESULTS: We found an increasing number of repeats associated with younger age at onset (p < 0.001). Duration of the disease decreased significantly with the length of the octapeptide repeat (p < 0.001) when adjusting for age at onset. CONCLUSIONS: Our findings show significant inverse associations of the length of the PRNP octapeptide repeat with age at disease onset and disease duration in the spongiform encephalopathies.
Assuntos
Demência/genética , Demência/patologia , Príons/genética , Sequências Repetitivas de Ácido Nucleico , Idade de Início , Progressão da Doença , Humanos , Fenótipo , Análise de Regressão , Fatores de TempoAssuntos
Encéfalo/patologia , Transtornos Cerebrovasculares/complicações , Transtornos Cognitivos/patologia , Demência/patologia , Depressão/patologia , Idoso , Envelhecimento/psicologia , Encéfalo/irrigação sanguínea , Transtornos Cerebrovasculares/etiologia , Transtornos Cerebrovasculares/patologia , Transtornos Cognitivos/etiologia , Demência/classificação , Demência/etiologia , Depressão/classificação , Depressão/etiologia , Humanos , Fatores de RiscoRESUMO
The authors describe the clinical characteristics, MRI abnormalities, and molecular findings in a patient with a novel variant of a two-octarepeat insertion mutation in the prion protein gene. This patient presented with moderately progressive dementia of presenile onset and gait ataxia. MRI showed extensive cortical atrophy and white matter abnormalities. The mutation consists of a two-octarepeat insertion mutation and irregularities in the nucleotide sequence of the octarepeat region.
Assuntos
Encéfalo/patologia , Demência/genética , Demência/patologia , Príons/genética , Adulto , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Mutação/genéticaAssuntos
Anti-Hipertensivos/uso terapêutico , Transtornos Cognitivos/diagnóstico , Demência/etiologia , Demência/prevenção & controle , Hipertensão/complicações , Programas de Rastreamento/métodos , Medicina de Família e Comunidade , Humanos , Hipertensão/tratamento farmacológico , Programas de Rastreamento/normas , Países BaixosAssuntos
Edema Encefálico/diagnóstico por imagem , Endarterectomia das Carótidas , Idoso , Idoso de 80 Anos ou mais , Edema Encefálico/complicações , Edema Encefálico/etiologia , Estenose das Carótidas/complicações , Estenose das Carótidas/diagnóstico por imagem , Estenose das Carótidas/cirurgia , Feminino , Humanos , RadiografiaRESUMO
Three patients with a severe symptomatic carotid stenosis developed headache, epileptic seizures and focal neurologic deficits several days after carotid endarterectomy. CT of the brain revealed hypodensities, indicative of cerebral oedema with haemorrhagic components. This is caused by cerebral hyperperfusion, a complication after carotid endarterectomy as a result of increased cerebral perfusion on the side of the operated carotid stenosis. Dysfunction of the cerebral autoregulation believed to be the cause of this hyperperfusion. Sometimes these complications are incorrectly attributed to one of the better known types of stroke.