RESUMEN
BACKGROUND: The latest developments in Lewy Body Dementia (DLB) raise some controversies on clinical features, neuroimaging and therapy. The aim of our study is to determine clinical, neuropsychological, neuroimaging and EEG profile of DLB through retrospective and prospective data of 102 patients. METHODS: data were collected with an analytical form that was developed by an expertise of neurologists. RESULTS: DLB represented 4.8% of the dementia population, with no sex difference. Family history of dementia was common (24.5%), while familiarity for parkinsonism was rare (4.9%). Cognitive disturbances were the predominant clinical presentation at onset (49%), followed by behavioral symptoms (29.4%) and parkinsonism (21.6%). Clinical features at consultation were: memory disturbances (almost all cases), symmetrical (68.6%) or asymmetrical (18.6%) parkinsonism, cognitive fluctuations (49%), visuospatial deficits (53.9%), and visual hallucinations (44.1%). Autonomic signs were present in a third of the cases, while sleep disorders were present in 44.1%. Some clinical response to antiparkinsonian drugs was evident in half of the cases. MRI, SPET, EEG and Neuropsychiatric Inventory data were available in a subgroup of patients. CONCLUSIONS: Most of our data were in accordance with the previous literature. However, some data underline the relationship between DLB, Alzheimer's and Parkinson's disease.
Asunto(s)
Enfermedades del Sistema Nervioso Autónomo/epidemiología , Síntomas Conductuales/epidemiología , Enfermedad por Cuerpos de Lewy/complicaciones , Enfermedad por Cuerpos de Lewy/psicología , Trastornos de la Percepción/epidemiología , Anciano , Anciano de 80 o más Años , Estudios de Cohortes , Diagnóstico por Imagen , Electroencefalografía , Femenino , Hospitales Psiquiátricos , Humanos , Italia , Enfermedad por Cuerpos de Lewy/diagnóstico , Masculino , Persona de Mediana Edad , Pruebas Neuropsicológicas , Prevalencia , Psicotrópicos/uso terapéutico , Estudios RetrospectivosRESUMEN
The acronym IBMPFD denotes a syndrome including inclusion body myopathy, Paget's disease of the bone (PDB) and frontotemporal dementia (FTD) as cardinal features, which is caused by missense mutations in the VCP gene. We studied the clinical characteristics and the histopathological features in two siblings and their mother who presented with adult-onset myopathy and presenile, rapidly progressive FTD. One sibling also showed PDB. Light and electron microscopy performed on muscle biopsies demonstrated degenerative changes with inclusion bodies and abnormal aggregates. Mutation analysis of the VCP gene on affected siblings revealed a heterozygous missense mutation (R155H) in a hot spot. This is the first Italian family with multiple individuals diagnosed as having IBMPFD and carrying the recurrent R155H mutation. The implications for genetic counselling were also discussed, with regard to the procedures that may be offered to families suffering from a multisystem disorder with high risk of cognitive decline.
Asunto(s)
Adenosina Trifosfatasas/genética , Proteínas de Ciclo Celular/genética , Demencia/genética , Miositis por Cuerpos de Inclusión/genética , Osteítis Deformante/genética , Adulto , Análisis Mutacional de ADN , Femenino , Asesoramiento Genético , Humanos , Italia , Masculino , Persona de Mediana Edad , Mutación Missense , Linaje , Síndrome , Proteína que Contiene ValosinaRESUMEN
OBJECTIVE: To assess whether different patterns of regional gray matter loss in patients with mild cognitive impairment (MCI) are associated with different risks of conversion to Alzheimer disease (AD), using MRI and voxel-based morphometry (VBM). METHODS: The authors recruited 22 patients with MCI, 22 patients with probable AD, and 20 healthy subjects (HS). T1 volumes from each subject were postprocessed according to an optimized VBM protocol. All patients were clinically followed up (mean [SD] time = 28.7 [5.7] months), and patients with MCI were reclassified into two groups (converters and nonconverters to AD). RESULTS: When comparing patients with AD to HS, widespread areas of reduced gray matter density were found predominantly in temporal, frontal, and parietal lobes and in the insula. Comparing MCI converters and nonconverters with HS, the converters showed more widespread areas of reduced gray matter density than nonconverters, with a pattern of abnormalities similar to that seen in patients with AD. Conversely, when comparing the same groups with patients with AD, MCI nonconverters showed a pattern of gray matter density similar to that of HS. Areas of decreased gray matter density were also found in MCI converters compared with nonconverters. CONCLUSIONS: Different patterns of gray matter density distribution in patients with mild cognitive impairment may be associated to different rates of conversion to Alzheimer disease.
Asunto(s)
Enfermedad de Alzheimer/complicaciones , Trastornos del Conocimiento/complicaciones , Trastornos del Conocimiento/patología , Anciano , Mapeo Encefálico , Progresión de la Enfermedad , Femenino , Humanos , Imagen por Resonancia Magnética , MasculinoRESUMEN
Cortical hyperexcitability was studied in migraine patients using reaction times (RT's) and Event-Related Potentials (ERP) to the Stroop test. We found a slower RTs in patients if compared to controls, supporting the hypothesis of a mild cortical functions impairment even in interictal periods in this group of patients.