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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.

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.)

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.)

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.)

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.

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.

Três formas clínicas distintas podem ocorrer na demência frontotemporal (DFT): os subtipos desinibido, apático e estereotípico. Cada um apresenta padrão específico de achados clínicos, neuropsicológicos e de neuroimagem, além de manifestar as características centrais desta forma de demência. São relatados três casos clínicos, cada um ilustrando um subtipo da DFT, que foram avaliados neuropsicologicamente e por neuroimagem. Mesmo os casos apresentados sendo exemplos prototípicos de determinado subgrupo, compartilham também algumas características dos outros subgrupos. Assim, pacientes com quadro predominantemente desinibido ou estereotípico podem apresentar um fundo apático, bem como pacientes predominantemente apáticos ou desinibidos podem exibir comportamentos ritualísticos estereotipados. O estágio final da DFT é geralmente dominado por comportamento apático.

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.)

ABSTRACT Objectives: To explore the relationship between severe/serious mental illness (SMI) and the behavioral variant of frontotemporal dementia (bvFTD), as the patterns of symptoms and cognitive performance that characterize both disorders share similarities. Methods: We performed a systematic review investigating what has already been published regarding the relationship between bvFTD and SMI. Studies were selected from PubMed and LILACS databases, including those published up to February 12, 2018. The search strategy included the following terms: “frontotemporal dementia” plus “bipolar”, OR “frontotemporal dementia” plus “schizophrenia”, OR “frontotemporal dementia” plus “schizoaffective”. Publications without abstracts, case reports with absent genetic or histopathological confirmation, reviews and non-English language papers were excluded across the search process. Results: The search on PubMed retrieved 186 articles, of which 42 met eligibility criteria. On the LILACS database, none met the requirements. Generally, three major research aims were identified: 1) to look for frontotemporal lobar degeneration-associated genetic abnormalities in patients with prior SMI; 2) to compare the cognitive profile between patients affected by neurodegenerative disorders and schizophrenic patients; 3) to highlight the association between bvFTD and preceding psychiatric conditions and/or distinguish them both. The investigated mutations were found infrequently in the studied SMI samples. Cross-sectional studies comparing cognitive performance between bvFTD and psychiatric disorders mostly found no remarkable differences. There were only a few case reports identifying definite frontotemporal lobar degeneration in patients with previous psychiatric diagnoses. Conclusions: The available evidence demonstrates how fragile the current understanding is regarding the association between bvFTD and prior SMI.