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INTRODUCTION: Cerebral amyloid angiopathy-related inflammation (CAA-ri) is an entity characterised by an inflammatory response to ß-amyloid deposition in the walls of cerebral microvessels. METHODS: We conducted a retrospective review of a series of patients with a diagnosis of CAA-ri according to histopathological study findings or clinical-radiological diagnostic criteria. RESULTS: The study included 7 patients (5 men) with a mean age of 79 years. Disease onset was acute or subacute in 6 patients. The most frequent symptoms were cognitive impairment (nâ¯=â¯6), behavioural alterations (nâ¯=â¯5), epileptic seizures (nâ¯=â¯5), focal neurological signs (nâ¯=â¯4), and headache (nâ¯=â¯2). Cerebrospinal fluid was abnormal in 3 patients (lymphocytic pleocytosis and high protein levels). The most frequent MRI findings were microbleeds (nâ¯=â¯7), subcortical white matter hyperintensities on T2-FLAIR sequences (nâ¯=â¯7), and leptomeningeal enhancement (nâ¯=â¯6). Lesions were bilateral in 3 patients and most frequently involved the parieto-occipital region (nâ¯=â¯5). Amyloid PET studies were performed in 2 patients, one of whom showed pathological findings. Two patients underwent brain biopsy, which confirmed diagnosis. All patients received immunosuppressive therapy. An initially favourable clinical-radiological response was observed in all cases, with 2 patients presenting radiological recurrence after treatment withdrawal, with a subsequent improvement after treatment was resumed. CONCLUSIONS: Early diagnosis of CAA-ri is essential: early treatment has been shown to improve prognosis and reduce the risk of recurrence. Although a histopathological study is needed to confirm diagnosis, clinical-radiological criteria enable diagnosis without biopsy.
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Angiopatía Amiloide Cerebral , Masculino , Humanos , Anciano , Angiopatía Amiloide Cerebral/complicaciones , Angiopatía Amiloide Cerebral/diagnóstico por imagen , Inflamación/patología , Imagen por Resonancia Magnética , Radiografía , Estudios RetrospectivosRESUMEN
INTRODUCTION: Smartphone use in biomedical research is becoming more prevalent in different clinical settings. We performed a pilot study to obtain information on smartphone use by patients with essential tremor (ET) and healthy controls, with a view to determining whether performance of touchscreen tasks is different between these groups and describing touchscreen interaction factors. METHOD: A total of 31 patients with ET and 40 sex- and age-matched healthy controls completed a descriptive questionnaire about the use of smartphones. Participants subsequently interacted with an under-development Android application, and performed 4 tests evaluating typical touchscreen interaction gestures; each test was performed 5 times. RESULT: The type of smartphone use and touchscreen interaction were not significantly different between patients and controls. Age and frequency of smartphone use are key factors in touchscreen interaction. CONCLUSION: Our results support the use of smartphone touchscreens for research into ET, although further studies are required.
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Temblor Esencial , Teléfono Inteligente , Gestos , Estado de Salud , Humanos , Proyectos PilotoRESUMEN
INTRODUCTION: Cerebral amyloid angiopathy-related inflammation (CAA-ri) is an entity characterised by an inflammatory response to ß-amyloid deposition in the walls of cerebral microvessels. METHODS: We conducted a retrospective review of a series of patients with a diagnosis of CAA-ri according to histopathological study findings or clinical-radiological diagnostic criteria. RESULTS: The study included 7 patients (5 men) with a mean age of 79 years. Disease onset was acute or subacute in 6 patients. The most frequent symptoms were cognitive impairment (n = 6), behavioural alterations (n = 5), epileptic seizures (n = 5), focal neurological signs (n = 4), and headache (n = 2). Cerebrospinal fluid was abnormal in 3 patients (lymphocytic pleocytosis and high protein levels). The most frequent MRI findings were microbleeds (n = 7), subcortical white matter hyperintensities on T2-FLAIR sequences (n = 7), and leptomeningeal enhancement (n = 6). Lesions were bilateral in 3 patients and most frequently involved the parieto-occipital region (n = 5). Amyloid PET studies were performed in 2 patients, one of whom showed pathological findings. Two patients underwent brain biopsy, which confirmed diagnosis. All patients received immunosuppressive therapy. An initially favourable clinical-radiological response was observed in all cases, with 2 patients presenting radiological recurrence after treatment withdrawal, with a subsequent improvement after treatment was resumed. CONCLUSIONS: Early diagnosis of CAA-ri is essential: early treatment has been shown to improve prognosis and reduce the risk of recurrence. Although a histopathological study is needed to confirm diagnosis, clinical-radiological criteria enable diagnosis without biopsy.
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INTRODUCTION: Knowledge of the socioeconomic impact of dementia-related disorders is essential for appropriate management of healthcare resources and for raising social awareness. METHODS: We performed a literature review of the published evidence on the epidemiology, morbidity, mortality, associated disability and dependence, and economic impact of dementia and Alzheimer disease (AD) in Spain. CONCLUSIONS: Most population studies of patients older than 65 report prevalence rates ranging from 4% to 9%. Prevalence of dementia and AD is higher in women for nearly every age group. AD is the most common cause of dementia (50%-70% of all cases). Dementia is associated with increased morbidity, mortality, disability, and dependence, and results in a considerable decrease in quality of life and survival. Around 80% of all patients with dementia are cared for by their families, which cover a mean of 87% of the total economic cost, resulting in considerable economic and health burden on caregivers and loss of quality of life. The economic impact of dementia is huge and difficult to evaluate due to the combination of direct and indirect costs. More comprehensive programmes should be developed and resources dedicated to research, prevention, early diagnosis, multidimensional treatment, and multidisciplinary management of these patients in order to reduce the health, social, and economic burden of dementia.
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Enfermedad de Alzheimer , Habilidades Sociales , Enfermedad de Alzheimer/epidemiología , Encéfalo , Cuidadores , Femenino , Humanos , Calidad de VidaRESUMEN
INTRODUCTION: Smartphones use in biomedical research is becoming more prevalent in different clinical settings. We performed a pilot study to obtain information on smartphone use by patients with essential tremor (ET) and healthy controls, with a view to determining whether performance of touchscreen tasks is different between these groups and describing touchscreen interaction factors. METHOD: A total of 31 patients with ET and 40 sex- and age-matched healthy controls completed a descriptive questionnaire about the use of smartphones. Participants subsequently interacted with an under-development Android application, and performed 4 tests evaluating typical touchscreen interaction gestures; each test was performed 5 times. RESULT: The type of smartphone use and touchscreen interaction were not significantly different between patients and controls. Age and frequency of smartphone use are key factors in touchscreen interaction. CONCLUSION: Our results support the use of smartphone touchscreens for research into ET, although further studies are required.
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We present a 86-year-old woman without relevant medical history and two brothers who died by dementia, who started at 55 years with depression and personality changes with ongoing worsening (>30 years) and functional decline. Screening dementia blood test and brain magnetic resonance imaging did not show results that pointed to a secondary cause. The patient met the diagnostic criteria for possible behavioral frontotemporal dementia with a slow progression (bvFTD-SP), suggesting a benign variant. A genetic study confirmed a C9ORF72 hexanucleotide expansion, making this the sixth case mentioned in the literature. We review and discuss the other cases described previously.
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Proteína C9orf72/genética , Demencia Frontotemporal/genética , Mutación/genética , Anciano de 80 o más Años , Progresión de la Enfermedad , Femenino , HumanosRESUMEN
Semantic variant primary progressive aphasia (svPPA) is a clinical syndrome included in the frontotemporal dementia (FTD) spectrum. Unlike other forms of FTD, it is sporadic in the majority of cases and not commonly associated with motor neuron disease (MND). We describe a case of svPPA associated with MND in the same family, due to a mutation of the transactive response DNA binding protein (TARDBP) gene, and review the literature.
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Afasia Progresiva Primaria/genética , Afasia Progresiva Primaria/fisiopatología , Proteínas de Unión al ADN/genética , Afasia Progresiva Primaria/diagnóstico por imagen , Femenino , Humanos , Persona de Mediana Edad , Enfermedad de la Neurona Motora/genética , Mutación , Linaje , SemánticaRESUMEN
AIM OF THE STUDY: Spinocerebellar ataxia type 3 is the most common cause of autosomal dominant inherited ataxia worldwide. MATERIAL AND METHODS: Clinically, it exhibits wide phenotypic variability. Presentation as isolated dystonia is exceptional. RESULTS: Here, the case of a woman with writers cramp without ataxia is presented as a paucisymptomatic manifestation of this disease. CONCLUSIONS: This association has not been described to date and extends the clinical variability of the disease.
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Trastornos Distónicos/etiología , Enfermedad de Machado-Joseph/complicaciones , Encéfalo/diagnóstico por imagen , Trastornos Distónicos/diagnóstico por imagen , Femenino , Humanos , Enfermedad de Machado-Joseph/diagnóstico por imagen , Imagen por Resonancia Magnética , Persona de Mediana EdadRESUMEN
This review proposes a more optimistic view of Alzheimer's disease (AD), in contrast to that contributed by the ageing of the population and the failure of potentially curative therapies (vaccines and others). Treatment failure is likely due to the fact that AD gestates in the brain for decades but manifests in old age. This review updates the concept of AD and presents the results of recent studies that show that primary prevention can reduce the incidence and delay the onset of the disease. Half of all cases of AD are potentially preventable through education, the control of cardiovascular risk factors, the promotion of healthy lifestyles and specific drug treatments. These approaches could substantially reduce the future incidence rate of this disease.
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The Minimental State Examination (MMSE), created in 1975 as a tool for briefly evaluating the patient's mental state, has been widely used and is the most frequently cited cognitive test on Medline, as well as being the one with the most versions in different languages (over 70). Through a review of the Medline database, this paper aims to analyse its virtues and shortcomings, in addition to determining its current clinical usefulness, in both the original version and any of its modifications, although here we are mainly concerned with its Spanish adaptations. The MMSE (original or versions) is the most commonly used test for standardised cognitive assessment in the clinical setting, especially in the case of the elderly. It is the test with the most data for screening, staging and monitoring dementias. Yet, because filling it in may take over 10 minutes, it has to compete with shorter, more specific screening tests in the primary care and community setting. In the hospital and specialised setting, there is a need for broader standardised neuropsychological tests that make it possible to detect subtle cognitive disorders in patients with incipient dementia or mild cognitive impairment, as well as to establish a cognitive profile of the different subtypes of dementia. This study proposes a series of recommendations on the clinical use of the Spanish versions of the MMSE in different contexts of application.
TITLE: Versiones en español del Minimental State Examination (MMSE). Cuestiones para su uso en la practica clinica.El Minimental State Examination (MMSE), creado en 1975 como instrumento para la evaluacion breve del estado mental, ha tenido una gran difusion, y es el test cognitivo mas citado en Medline y con mayor numero de versiones idiomaticas (superiores a 70). Este articulo pretende, mediante una revision en la base de datos Medline, analizar sus virtudes y limitaciones, ademas de precisar su utilidad clinica actual, tanto de la version original como de sus modificaciones, principalmente de las adaptaciones al español. El MMSE (original o versiones) es el test mas utilizado para la evaluacion cognitiva estandarizada en el ambito clinico, sobre todo en el anciano. Es el que dispone de mas datos para el cribado, estadiaje y seguimiento de las demencias. Sin embargo, dado que su cumplimentacion puede requerir mas de 10 minutos, ha de competir con tests de cribado mas cortos y especificos en atencion primaria y el medio comunitario. En el ambito hospitalario y especializado, se precisan evaluaciones neuropsicologicas estandarizadas mas amplias que permitan detectar alteraciones cognitivas sutiles en pacientes con demencia incipiente o alteracion cognitiva leve, ademas de establecer un perfil cognitivo de los diferentes subtipos de demencias. Este trabajo realiza una serie de recomendaciones sobre el uso clinico de las versiones españolas del MMSE en diferentes contextos de aplicacion.
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Escalas de Valoración Psiquiátrica Breve , Escala del Estado Mental , Disfunción Cognitiva/diagnóstico , Demencia/diagnóstico , HumanosRESUMEN
The TSC2 gene responsible for Tuberous Sclerosis, is located in chromosome 16p 13.3, adjacent to the gene for autosomal dominant polycystic kidney disease. A large deletion can involve both genes, causing the so-called TSC2/PKD1 contiguous gene syndrome (MIM#600273). It is characterized by congenital renal cysts, or their early onset in patients with tuberous sclerosis, and implies a worst prognosis in renal disease. We report the case of a five year-old boy with tuberous sclerosis, who presented with multiple large bilateral renal cysts in the neonatal period. A genetic confirmation study was later performed using the multiple ligation probe amplification (MLPA) technique.