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Introduction: The variant c.1414-1G>T in the GRN gene has previously been reported as probably pathogenic in subjects of Hispanic origin in the American continent. Methods: We report 5 families of Spanish origin carrying this variant, including the clinical, neuroimaging, and laboratory findings. Results: Phenotypes were strikingly different, including cases presenting with behavioral variant frontotemporal dementia, semantic variant primary progressive aphasia, rapidly progressive motor neuron disease (pathologically documented), and tremor-dominant parkinsonism. Retinal degeneration has been found in homozygous carriers only. Ex vivo splicing assays confirmed that the mutation c.1414-1G>T affects the splicing of the exon, causing a loss of 20 amino acids in exon 11. Conclusions: We conclude that variant c.1414-1G>T of the GRN gene is pathogenic, can lead to a variety of clinical presentations and to gene dosage effect, and probably has a Spanish founder effect. Resumen: Introducción: La variante c.1414-1G > T en el gen GRN ha sido reportada previamente como probablemente patogénica en sujetos del continente Americano de origen Hispano. Métodos: Reportamos cinco familias de origen Español portadoras de la mencionada variante. Se presentan las características clínicas, de neuroimagen y de laboratorio. Resultados: Los fenotipos encontrados difieren llamativamente entre los distintos casos, incluyendo presentación como demencia frontotemporal variante conductual, variante semántica de afasia progresiva primaria, enfermedad de neurona motora rápidamente progresiva (con confirmación neuropatológico) y parkinsonismo de predominio tremórico. Degeneración retiniana fue evidenciada únicamente en portadores homocigotos. Ensayos de splicing ex vivo confirman que la mutación c.1414-1G > T afecta el splicing del exón, causando una pérdida de 20 aminoácidos en el exón 11. Conclusiones: Concluimos que la variante c.1414-1G > T del gen GRN es patogénica, puede causar presentaciones clínicas diversas, efecto de dosis génica y probablemente represente un efecto fundador de origen Español.

Neuropsychological assessment is essential in patients with cognitive impairment and could be coupled with psychophysiological techniques. Specifically, quantitative electroencephalography may complement data from neuroimage, neurophysiology, and neuropsychology providing relevant information about brain functioning and dynamics. A 77-year-old male consulted for expressive language difficulties that began at age 65. Neuroimaging findings revealed atrophy and hypometabolism of the left temporal and frontal lobe, with cerebral microlesions. Quantitative electroencephalography findings showed decreased absolute and relative power, low alpha peak frequency, and marked inter- and intrahemispheric frontal and temporal asymmetries. The neuropsychological profile showed alteration in executive and expressive language domains, consistent with neuroimaging and psychophysiological findings. A diagnosis of primary progressive aphasia, a form of frontotemporal dementia, as well as a small vessel disease and mild cognitive impairment was concluded. Neuropsychological and quantitative electroencephalography data contribute to the diagnosis and would help determine the disease progression. [ABSTRACT FROM AUTHOR]

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Objetivo: Relatar caso de paciente jovem com múltiplas fraturas decorrentes da doença de Nasu-Hakola (DNH). Metodologia: revisão de prontuário, entrevista com paciente e familiares e revisão de literatura. Resultados: paciente masculino, 33 anos, sofreu quatro fraturas por fragilidade óssea em metatarso, punhos e tornozelo, além de alteração comportamental, evoluindo com demência frontal. A densitometria óssea revelou massa óssea diminuída, entretanto não foram encontradas causas de osteoporose secundária. As radiografias de ossos longos revelaram múltiplas lesões osteolíticas de padrão cístico metaepifisárias em membros inferiores e superiores. Diante do quadro de fraturas e demência, foi levantada a hipótese de DNH, condição autossômica recessiva rara que cursa com osteodisplasia lipomembranosa policística com leucoencefalopatia esclerosante. Mutações inativadoras dos genes TREM2 e TYROBP representam a etiologia molecular, mas a fisiopatologia das lesões ósseas e neurológicas é desconhecida. Não há tratamento estabelecido. Entretanto, foi iniciado bisfosfonato (alendronato) empiricamente há 8 anos, não havendo recorrência de fraturas, o que surpreende devido à rápida evolução da doença óssea descrita na literatura. Conclusão: A DNH é causa rara de fratura em jovens. No caso descrito, o tratamento com bisfosfonato resultou em bom controle clínico da doença óssea, além de estabilidade radiológica das lesões.

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Background Frontotemporal dementia (FTD) is a frequent cause of young-onset dementia and represents a major challenge for the diagnosis and clinical management. It is essential to evaluate the difficulties faced by physicians on the diagnostic workup and on patient care.

Las demencias frontotemporales y las demencia de cuerpos de Lewy, son la segunda causa de demencias degenera- tivas después de la enfermedad de Alzheimer. Estas demencias son un grupo complejo y variado que tiene dentro de sus variantes mas frecuentes: la demencia de tipo frontal, la cual compromete más el comportamiento; la afasia primaria progresiva y la demencia semántica, que implican un mayor deterioro del lenguaje y unas variantes menos frecuentes, pero no menos importantes, como parálisis supranuclear progresiva, y la degeneración corticobasal la cual compromete algunas praxias. Debido a la importancia de estas demencias en este artículo se presentan cuatro casos ilustrativos.

La variante comportamental de la demencia frontotemporal (DFTc) es un síndrome clínico caracterizado por el deterioro progresivo del comportamiento y las funciones cognitivas. Estos cambios son el resultado de una dege- neración frontotemporal asociada a un espectro heterogéneo de patologías. Este artículo hace una revisión de los síntomas característicos de la DFTc, y provee recomendaciones para un diagnóstico temprano.

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RESUMO A “demência frontotemporal” (DFT) é uma síndrome clínica, cujo denominador comum é o acometimento focal dos lobos frontais e/ou temporais. A DFT tem três fenótipos clínicos distintos: a variante comportamental e dois subtipos linguísticos, a saber, a afasia progressiva primária não-fluente/agramática (APP-NF/A) e a afasia progressiva primária semântica (APP-S). A DFT é a segunda causa mais comum de demência em indivíduos com idade inferior a 65 anos, após a doença de Alzheimer. O presente artigo apresenta recomendações para diagnóstico da DFT no cenário brasileiro, considerando os três níveis de complexidade do sistema de saúde: atenção primária à saúde e níveis secundários. São propostos protocolos de investigação diagnóstica abrangendo testagem cognitiva, avaliação comportamental, avaliação fonoaudiológica, exames laboratoriais e de neuroimagem.

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La demencia frontotemporal derecha es una variante anatómica de la demencia frontotemporal. Se asocia con síntomas cognitivos y comportamentales característicos, entre los que se destacan: agnosia topográfica, desorientación espacial, prosopagnosia, conductas obsesivas, agresividad, impulsividad, desinhibición y pérdida de la empatía. Se reportan dos casos, que desde el punto de vista clínico e imaginológico, resultan ilustrativos de la variante derecha en la demencia frontotemporal.

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Copyright of Arquivos de Neuro-Psiquiatria is the property of Thieme Medical Publishing Inc. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Arquivos de Neuro-Psiquiatria is the property of Thieme Medical Publishing Inc. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

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Frontotemporal Dementia (FTD) is a neurodegenerative disease that currently has no curative treatment. The prevalence of this syndrome is lower than other dementias such as Alzheimer’s disease, but it is the second cause of dementia in the non-elderly people. In the FTD, a frontal variant is distinguished whose symptoms are purely behavioral and three variants of Primary Progressive Aphasia (PPA) that are characterized by the presence of language difficulties at the beginning of the disease. The fluent or semantic variant of the PPA constitutes 20% of the cases of FTD, and the main symptoms presented by affected patients are related to the difficulty to access the meaning of the words, as well as to access the signifier of the same. This disease is described as a gradual decline of semantic memory, while other cognitive processes appear relatively conserved, at least in the early stages of the disease. This deterioration makes the daily life of the patient have great limitations that in turn compromise the daily life of their relatives and caregivers. With the aim of improving the quality of life of the people affected by PPA fluent or semantic variant, an intervention proposal consisting of 12 sessions of cognitive stimulation is presented. This proposal is aimed at stimulating language functions, without forgetting other cognitive domains related to pathology. Before and after the implementation of the program, an evaluation of the cognitive abilities of the person must be carried out in order to verify the evolution of the patient. Finally, some important recommendations for the advice and support of family members and caregivers are presented.

Introducción: La riqueza de las manifestaciones neuropsicológicas de la demencia frontotemporal, ha permitido la identificación de diferentes variantes de la enfermedad, sin embargo, existen pacientes en los que se entrelazan las características clínicas de más de una variante, lo que ha llevado a cuestionar lo relativo de las clasificaciones vigentes. Objetivo: Caracterizar el funcionamiento cognitivo de un paciente donde concomitan alteraciones conductuales y del lenguaje, típicas de la demencia frontotemporal. Caso clínico: Mujer diestra, de 50 años de edad, con cambios conductuales marcados, a los cuales, de forma progresiva, se sumaron alteraciones del lenguaje, en un periodo de evolución de aproximadamente un año y seis meses. Por imágenes de tomografía axial computarizada, se confirma atrofia cortical a predominio frontal. Se emplearon para la evaluación la batería neuropsicológica breve NEUROPSI, la escala Hasegawa y la batería de evaluación frontal de Litvan; se constata predominio de alteraciones en el lenguaje impresivo y expresivo, las funciones ejecutivas y en la memoria verbal. Conclusiones: Las alteraciones detectadas, confirman la coexistencia de manifestaciones de la variante conductual (con tendencia a la desinhibición) y la variante semántica de la demencia frontotemporal.

Cognitive stimulation seems to be an important tool to slow the rate of cognitive decline due to dementia. This study describes the development of a cognitive stimulation program (ImproveCog) for people with Mild Cognitive Impairment, Alzheimer’s Disease, and behavioral variant Frontotemporal Dementia, within the Medical Research Council framework. Stage 1 established the theoretical and evidence basis of the program through a review of the existing cognitive stimulation programs as well as cognitive exercises and their efficacy (Pre-Clinical Phase) and includes qualitative testing through five focus group with eighteen health professionals and twelve individual interviews with people with cognitive impairment (Phase I - Modeling). An initial version of the program, which consisted of twelve 90-min weekly sessions and included a manual with cognitive stimulation exercises to be performed at home, was ready to be implemented in a pilot study to create a final version of ImproveCog. [ABSTRACT FROM AUTHOR]

The frontotemporal dementias are not the most commons. Its low incidence implies that is very relevant the report of any case assessment and diagnosed with this neuropsychological syndrome. The objective of the present study is to report a case of frontotemporal dementia with behavioral, cognitives and motors deficits. Was study a masculine patient with 57 years old. Was utilized as neuropsychological test: Minimental State Examination, Rey's Verbal Learning Test, Trail Making Test, Picture completion subtest, and Semantic picture association test. The neuroimaging studies showed an alteration frontotemporal. The approaches for the clinical diagnosis of frontotemporal dementia were useful for the analysis of the reported case and we suggest the study from the same ones to the medical personnel of our hospital. The neuropsychological tests applied, allowed to evaluate all the cognitive processes and the level of deterioration and integration of the same ones, what facilitates to toast to the family of the patient explanatory elements on their behavior and specific rules for their handling. [ABSTRACT FROM AUTHOR]

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Frontotemporal dementia (FTD) has a lower prevalence than Alzheimer Disease (AD), but its age of onset takes place earlier, between 50 and 60 years. For this reason, it supposes a great overload for caregivers and an increasing dependence for patients over a long period of time. FTD comprises a set of neurodegenerative diseases that affect different cerebral cortex areas and the nature of symptoms on each clinical syndrome will depend on the areas affected during each of the different stages of the disease. Thus, a behavioral variant, predominantly frontal and three primary progressive aphasia variants, named non-fluent, semantic and logopenic, all of them predominantly temporal, are described. Their study is particularly relevant in the field of neuropsychology because initially these dementias affect the neural networks supporting cognition and social-adjustment, language and semantic knowledge of the world. The great variety of symptoms along with its heterogenic nature determine that at the onset of the disease and during its evolution, FTD can be confused with AD or other pathologies. The aim of this work is to review its main characteristics and diagnosis boundaries in order to provide useful tools for differential diagnosis. FTD etiology is related to structural changes in the proteins responsible for maintaining the cytoskeleton of neurons, gene expression regulation and cell growth. Recently, new advances in the study of biomarkers, genetics and neuroimage diagnosis of FTD have made it possible to clarify the diagnostic criteria of the different FTD subtypes, are helping to define the boundaries with AD and are allowing to establish a neuropathological relationship with other clinical syndromes including atypical parkinsonism spectrum, amyotrophic lateral sclerosis and apraxia of speech.

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Copyright of Revista Signos is the property of Pontificia Universidad Catolica de Valparaiso and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Arquivos de Neuro-Psiquiatria is the property of Thieme Medical Publishing Inc. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Frontotemporal dementia is a neurodegenerative disorder of which the behavioral variant is most common. This condition is currently considered the most common cause of dementia in people younger than 60 years. Here, we present two unrelated cases in which the typical symptoms were cognitive and behavioral progressive deterioration and psychiatric disorders such as disinhibition, impulsive acts, apathy, lack of empathy, stereotypies, and changes in eating habits. The first case exhibited pathological gambling as the initial symptom and resided in a psychiatric facility for a year. Notably, this was the second such case in Latin America and one of only a few such cases reported worldwide. The second case presented with epileptic seizures during evolution. In both cases, brain magnetic resonance revealed left-predominant frontotemporal atrophy, and alterations in executive function were evident during neuropsychological assessments.

El aumento progresivo de la esperanza de vida ha impuesto nuevos desafíos en el abordaje de las patologías que sufren los adultos mayores. Las demencias son unas de las patologías más frecuentes en este grupo etario, causando la pérdida de autonomía de los pacientes y afectando la salud y calidad de vida de sus cuidadores. En conjunto con otros exámenes, la evaluación neuropsicológica cumple un rol fundamental en el proceso de diagnóstico de las demencias, objetivando el Deterioro Cognitivo, entregando información sobre la autonomía de los pacientes y cumpliendo un rol indispensable en el seguimiento de estas enfermedades. La siguiente revisión presentará la problemática y los primeros estudios cognitivos de las demencias, finalizando con una síntesis de las investigaciones que han contribuido a establecer los perfiles neuropsicológicos de las demencias con mayor incidencia en la población.

Currently, neurodegenerative disorders represent a serious public health problem, with an increasing prevalence worldwide. Even though there has been an attempt to harmonize the diagnostic criteria for these disorders, there are still obstacles that hinder their correct differentiation, leading to subsequent errors in therapeutic stages. This review aims to demonstrate the potential of three neuroimaging techniques (positron emission tomography, diffusion-weighted magnetic resonance, and structural magnetic resonance) in the identification of discriminating biomarkers that support the diagnostic process in three of the most common neurodegenerative disorders (Alzheimer's disease, Mild Cognitive Impairment, frontotemporal dementia). A review was done via an electronic literature search. The use of ScienceDirect, PubMed, SciELO, and IEEE databases to find information on representative structural and functional findings, as well as the diagnostic power of these techniques, is highlighted. As the studies confirm, neuroimages show their potential to establish patterns in the differentiation of neurodegenerative disorders. The structural magnetic resonance remains as a central tool in the identification of cortical and subcortical atrophy patterns. On the other hand, advances in positron emission tomography have enabled not only antemortem diagnosis but also early preclinical identification. Likewise, the recent approach of diffusion magnetic resonance allows to characterizing the microstructural integrity of the cerebral white matter and its relationship with cognitive deterioration in the context of the neurodegenerative disorder. By integrating information from different domains, the clinically accepted tools are supported, guaranteeing better diagnostic accuracy and the prediction of the onset of the disorder. The results show that through multimodal approaches, multicenter collaborations, harmonization of methodologies and acquisition parameters it is possible to include these tools in the clinical repertoire for the identification of these disorders. [ABSTRACT FROM AUTHOR]

Neurodegenerative diseases represent a heterogeneous group of neurological conditions primarily involving dementia, motor neuron disease and movement disorders. They are mostly related to different pathophysiological processes, notably in family forms in which the clinical and genetic heterogeneity are lush. In the last decade, much knowledge has been acumulated about the genetics of neurodegenerative diseases, making it essential in cases of motor neuron disease and frontotemporal dementia the repeat expansions of C9orf72 gene. This review analyzes the main clinical, radiological and genetic aspects of the phenotypes related to the hexanucleotide repeat expansions (GGGGCC) of C9orf72 gene. Future studies will aim to further characterize the neuropsychological, imaging and pathological aspects of the extra-motor features of motor neuron disease, and will help to provide a new classification system that is both clinically and biologically relevant.

RESUMO Este estudo de caso objetiva analisar longitudinalmente a fala espontânea de um indivíduo com Demência Frontotemporal (DFT). Para isto, foram transcritos e analisados quatro episódios de terapia fonoaudiológica de um indivíduo com DFT entre 2012 e 2014 à luz da Neurolinguística Enunciativo-Discursiva. A análise evidenciou, ao longo da progressão da DFT, as diferentes estratégias semióticas utilizadas pelo indivíduo, como o uso discursivo da repetição e do gesto, bem como o lugar de importância do interlocutor para a promoção do fazer-dizer do indivíduo. Nesse sentido, conclui-se que o reconhecimento, na interlocução, das estratégias utilizadas pelo indivíduo em favor de sua posição de falante é o que viabiliza e legitima esta posição.

Introdução: A demência frontotemporal corresponde a um conjunto de síndromas demenciais que têm em comum alterações de personalidade, comportamento e linguagem como características clínicas precoces; e a atrofia do córtex frontal e temporal como característica anátomo-patológica. Esta entidade parece estar subdiagnosticada, pelo que se pretende sensibilizar para as dificuldades na sua identificação e na gestão terapêutica. Descrição do caso: Homem de 74 anos sem antecedentes pessoais e familiares de relevo para a história da doença atual. Um ano após a idade normal de reforma começou a apresentar alteração progressiva dos padrões de conduta social, com ausência do controlo do impulso, associado a comportamentos alimentares desadequados e a rituais, bem como um discurso empobrecido. Algum tempo após o início dos sintomas e observação por outras especialidades médicas foi avaliado e orientado por neurologia. Comentário: O médico de família pode ter um papel importante na suspeição desta entidade clínica, devido à prestação de cuidados longitudinais que assegura um vasto conhecimento dos utentes. Nesse sentido possibilitará uma investigação e orientações adequadas e atempadas, evitando tratamentos desnecessários e potencialmente prejudiciais. Destaca-se, ainda, o seu papel de gestão da multimorbilidade associada e de suporte aos familiares/cuidadores.

La variante frontal de la Demencia Frontotemporal (DFTvf) se caracteriza por un severo trastorno de la conducta y la personalidad, explicado por alteraciones en el procesamiento emocional y/o en la Teoría de la Mente (TdM). Objetivo: Evaluar los procesos cognitivos involucrados en a resolución del Test de Caras (Baron-Cohen et al., 1997) en comparación con el test Lectura de la Mente en los Ojos (LMO) (Baron-Cohen et al., 2001) y la utilidad de ambos para el diagnóstico de alteraciones en la TdM en pacientes con DFTvf. Población: 20 pacientes con diagnóstico de DFTvf, media de edad 66,9 años y escolaridad 6,25 años. Resultados: Correlación significativa entre LMO y el Test de Caras. Doble disociación entre ambas pruebas. Conclusión: La presencia de correlaciones indica que ambas pruebas se afectan en esta demencia, resultando herramientas de igual valor clínico. El hallazgo de disociaciones indica que cada una de ellas evalúa procesos cognitivos parcialmente independientesThe frontal variant of frontotemporal dementia (FTDfv) is characterized by a severe behavioural and personality impairment, explained by alterations in the emotional process and/or in Theory of Mind (ToM). Objective: To assess the cognitive processes involved in performing the Faces Test (Baron-Cohen et al., 1997) in comparison with Reading de Mind in the Eyes Test (RME) (Baron-Cohen et al., 2001), and the utility of both in the diagnosis of ToM alterations in FTDfv patients. Subjects: 20 patients diagnosed with FTDfv, mean age 66,9 years and mean education 6,25 years. Results: Significative correlation between RME and Faces Test. Double dissociation between these tests. Conclusion: The presence of correlations indicates that both tests are affected in this dementia, being both useful as clinical tools. The dissociations founded indicates that each one assesses partially-independent cognitive processes.

OBJECTIVE: To identify the therapeutic options available for treatment of cognitive and behavioral symptoms in frontotemporal lobar degeneration. METHOD: Systematic review using the descriptors "frontotemporal lobar degeneration" OR "frontotemporal dementia" OR "fronto-temporal dementia" OR "fronto-temporal degeneration" OR "Pick's disease" OR "Pick's atrophy" OR "semantic dementia" OR "progressive aphasia" AND "pharmacotherapy" OR "treatment" OR "efficacy" OR "effects" OR "management" was performed in the Medline and Lilacs databases. Selection criteria: Quality A - randomized clinical trials. Quality B - open studies or reports of six or more cases. Quality C - reports of five or fewer cases. Two reviewers independently assessed the clinical studies. Information collected included diagnostic criteria used, sample size, duration, efficacy and tolerability measures used and results obtained. RESULTS: From the 532 studies found, 29 complied with the inclusion criteria. All studies worked with a small sample, had short duration of treatment and used non-uniform measures in evaluating efficacy and tolerability. Studies showed disparate results with respect to behavior and cognition. CONCLUSION: There is still little, and poor, evidence available for treatment of frontotemporal lobar degeneration and studies with better methodological background are needed.OBJETIVO: Identificar as opções terapêuticas disponíveis para tratamento dos sintomas cognitivos e comportamentais da degeneração lobar frontotemporal. MÉTODO: Revisão sistemática utilizando os descritores "frontotemporal lobar degeneration OR frontotemporal dementia OR fronto-temporal dementia OR fronto-temporal degeneration OR Pick's disease OR Pick's atrophy OR semantic dementia OR progressive aphasia AND pharmacotherapy OR treatment OR efficacy OR effects OR management" nas bases Medline e Lilacs. Critérios de seleção: Qualidade A - Estudos clínicos randomizados. Qualidade B - Estudos abertos ou relatos de seis ou mais casos. Qualidade C - Relatos de cinco ou menos casos. Dois revisores avaliaram independentemente os estudos clínicos. As informações coletadas incluíram critérios de diagnóstico utilizados, número da amostra, duração, medidas de eficácia e tolerabilidade utilizadas e os resultados obtidos. RESULTADOS: Encontraram-se 532 estudos e 29 preenchiam os critérios. Todos os estudos incluíam uma amostra pequena, com curta duração de tratamento, com utilização de medidas não uniformes na avaliação da eficácia e da tolerabilidade. O comportamento e a cognição apresentaram resultados díspares entre os estudos. CONCLUSÃO: São poucas as evidências disponíveis para tratamento da degeneração lobar frontotemporal e de qualidade insatisfatória, sendo necessários estudos com maior rigor metodológico.

Se presenta un paciente de 62 años, sin antecedentes familiares de demencia, que a los 45 años debuta con crisis súbitas de disnea, visión borrosa, caída al suelo y movimientos repetitivos de brazos. Tratado por epilepsia con fenitoína y ácido valproico, repite esporádicamente crisis semejantes. Hace 4 años sus familiares notan cambios de personalidad, irritabilidad y conductas obsesivas. Hace 2 años aparecen episodios de desorientación de días de duración, algunos con alucinaciones auditivas y también fenómenos convulsivos. Ultimamente presenta crisis polimorfas, algunas con prolongada alteración de conciencia, estados catatoniformes y relajación esfinteriana. Examen físico y neurológico sin anormalidades. Evaluación neuropsicológica evidenció consistentes defectos en funciones frontales. EEG mostraron lentitud generalizada y actividad irritativa esporádica en regiones frontotemporales. Atrofia cortical de predominio anterior en CT scan e hipoperfusión fronto-temporal bilateral en SPECT. Exámenes de laboratorio y LCR normales. CONCLUSIÓN: La asociación de DFT con epilepsia, en forma no familiar, sugiere un síndrome neurodegenerativo cortical diferente.A 62 year-old patient is presented, without family antecedents of dementia who begins with 45 years of age with sudden crisis of dyspnea, blurred vision, fall to the floor and repetitive jerks of arms. Tried by epilepsy with phenytoin and valproate repeats similar crisis sporadically. Four years ago their relatives began to notice changes of personality, irritability and obsessive behaviors. Later on, are added episodes of disorientation of days of duration, some with auditory hallucinations and also convulsive manifestations. Finally appear polymorphic crisis, some with continue alteration of consciousness, catatonic states and sphincteric incontinence. Physical and neurological examination without abnormalities. Neuropsychological evaluation evidenced consistent defects in frontal functions. EEG showed widespread slowness and sporadic irritative activity in frontotemporal regions. Anterior cortical atrophy in CTscan and bilateral frontotemporal hypoperfusion in SPECT. Labs exams and CSF were normal. CONCLUSION: The association of FTD and epilepsy, in non-family form, suggests a different neurodegenerative cortical syndrome.

A demência semântica é uma síndrome clínica que faz parte do grupo das degenerações lobares frontotemporais. Relatamos o caso de um homem de 63 anos que aos 57 anos inicia comprometimento da memória semântica tanto para material visual quanto principalmente verbal. Alterações leves de comportamento estavam presentes e relacionadas com reações exageradas a estímulos dolorosos e comportamentos repetitivos. Os exames de neuroimagem estrutural e funcional evidenciaram comprometimento bitemporal assimétrico, predominando à esquerda. Diagnóstico diferencial deve ser feito com a doença de Alzheimer, outros representantes do grupo das degenerações lobares frontotemporais e qualquer síndrome que se apresente com uma afasia fluente progressiva.Semantic dementia is a clinical syndrome in the spectrum of frontotemporal lobar degeneration group. We report on a 63 years old man who presented with memory disorder of semantic nature for visual and mainly verbal material when he was 57 years old. Mild behavior impairment was present and related to exaggerated responses to algic stimuli and repetitive behavior. Structural and functional neuroimaging methods disclosed asymmetric bitemporal damage, mainly on the left. Differential diagnosis should be considered with Alzheimer's disease, another subtypes of the frontotemporal lobar degeneration group and any other syndrome that presents with a fluent aphasic progressive disorder.