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Abstract(s)
A Demência Frontotemporal é um síndrome clínico degenerativo insidioso caracterizado por défices no comportamento, função executiva e linguagem, associado a proeminente atrofia do lobo temporal e frontal. É a terceira causa mais comum de demência entre todas as idades, mas a segunda mais comum antes dos 65 anos.
As doenças do neurónio motor constituem um grupo heterogéneo de doenças em que há afeção dos neurónios motores, sejam superior, inferior ou ambos. A Esclerose Lateral Amiotrófica constitui o paradigma deste grupo de doenças, sendo responsável pela maioria dos casos.
Alguns resultados apontam para que 10 a 15% dos pacientes com doença do neurónio motor cumpram os critérios para demência frontotemporal, enquanto outros apontam para uma prevalência ligeiramente superior, mas o compromisso cognitivo mais ligeiro sem demência pode ser encontrado numa proporção maior de doentes. Alterações frequentemente encontradas nestes doentes incluem alterações na função executiva, linguagem, memória, comportamento, cognição social e emocional.
A mutação do gene c9orf72, no cromossoma 9p21, é a causa mais comum das formas esporádicas e familiares de esclerose lateral amiotrófica, demência frontotemporal e esclerose lateral amiotrófica com demência frontotemporal, já tendo sido identificada em 86% das formas familiares da associação de ambas. Outras mutações frequentes nos casos de associação incluem as dos genes TARDBP, FUS/TLS, UBQLN2, SQSTM1, VCP, entre outras.
As técnicas de neuroimagem têm-se tornado mais importantes na avaliação dos doentes, com novos estudos relatando alterações nestes indivíduos. Várias são as técnicas de avaliação destes doentes, destacando-se a morfometria baseada em voxel, análises de espessura cortical, tensor de difusão e métodos funcionais.
O prognóstico não é muito favorável em doentes com doença do neurónio motor com demência frontotemporal, com a morte a ocorrer em dois a três anos. Muitas vezes, uma estratégia semelhante à utilizada para as doenças do neurónio motor é utilizada para a abordagem ao doente com associação de demência frontotemporal. Recentemente, novas estratégias terapêuticas têm sido estudadas, algumas com resultados promissores.
Frontotemporal Dementia is an insidous degenerative clinical syndrome characterized by behavioural, executive function and language deficits associated with proeminent frontal and temporal lobes atrophy. It is the third most common cause of dementia in all ages, but the second most common before 65 years old. Motor neuron diseases constitute a heterogeneous group of diseases in which upper motor neuron, lower motor neuron or both are affected. Amyotrophic lateral sclerosis is the paradigm of this group of diseases, being responsible for the majority of cases. Some studies indicate that up to 10 to 15% of patients with motor neuron disease satisfy frontotemporal dementia criteria while others point at a slightly higher prevalence but a milder cognitive impairment without dementia can be found in a larger proportion of patients. Frequently found changes occur in the executive function, language, memory, behaviour, social and emotional cognition. C9orf72 gene mutation on chromosome 9p21 is the most common cause of sporadic and familial cases of amyotrophic lateral sclerosis, frontotemporal dementia and amyotrophic lateral sclerosis with frontotemporal dementia. This mutation was identified in 86% of the familial cases of the association of both. Other frequent mutations include the ones in TARDBP, FUS/TLS, UBQLN2, SQSTM1, VCP genes among others. Neuroimaging techniques have become more important in the assessment of patients with new studies reporting changes in these individuals. Several techniques may be used including the voxel based morphometry, cortical thickness analysis, diffusion tensor imaging and functional methods. Prognosis is not favorable in motor neuron disease patients with frontotemporal dementia with death occuring within two to three years. Quite often the same strategy used for motor neuron disease patients is applied in the treatment of both. Recently new therapeutical strategies have been studied some with promising results.
Frontotemporal Dementia is an insidous degenerative clinical syndrome characterized by behavioural, executive function and language deficits associated with proeminent frontal and temporal lobes atrophy. It is the third most common cause of dementia in all ages, but the second most common before 65 years old. Motor neuron diseases constitute a heterogeneous group of diseases in which upper motor neuron, lower motor neuron or both are affected. Amyotrophic lateral sclerosis is the paradigm of this group of diseases, being responsible for the majority of cases. Some studies indicate that up to 10 to 15% of patients with motor neuron disease satisfy frontotemporal dementia criteria while others point at a slightly higher prevalence but a milder cognitive impairment without dementia can be found in a larger proportion of patients. Frequently found changes occur in the executive function, language, memory, behaviour, social and emotional cognition. C9orf72 gene mutation on chromosome 9p21 is the most common cause of sporadic and familial cases of amyotrophic lateral sclerosis, frontotemporal dementia and amyotrophic lateral sclerosis with frontotemporal dementia. This mutation was identified in 86% of the familial cases of the association of both. Other frequent mutations include the ones in TARDBP, FUS/TLS, UBQLN2, SQSTM1, VCP genes among others. Neuroimaging techniques have become more important in the assessment of patients with new studies reporting changes in these individuals. Several techniques may be used including the voxel based morphometry, cortical thickness analysis, diffusion tensor imaging and functional methods. Prognosis is not favorable in motor neuron disease patients with frontotemporal dementia with death occuring within two to three years. Quite often the same strategy used for motor neuron disease patients is applied in the treatment of both. Recently new therapeutical strategies have been studied some with promising results.
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Keywords
C9orf72 Demência Frontotemporal Doença do Neurónio Motor Esclerose Lateral Amiotrófica