# Variante comportamental da demência frontotemporal

> Página oficial: https://raras.org/doenca/variante-comportamental-da-demencia-frontotemporal
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 275864 — https://www.orpha.net/en/disease/detail/275864
- **CID-10**: G31.0
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

A demência frontotemporal variante comportamental (bv-FTD) é uma forma de demência frontotemporal (FTD) que se caracteriza por alterações progressivas no comportamento e uma diminuição na capacidade de planejar, organizar e tomar decisões. Isso ocorre com um encolhimento (atrofia) que afeta principalmente a parte da frente do cérebro.

## Epidemiologia e herança

- **Prevalência**: 1-9 / 100 000
- **Padrão de herança**: Autosomal dominant

## Sinais e sintomas (71 fenótipos HPO)

- **Fraqueza muscular** — HPO: HP:0001324
- **Anormalidade da fala ou vocalização** — HPO: HP:0002167
- **Alexia** — HPO: HP:0010523
- **Agnosia visual** — HPO: HP:0030222
- **Atrofia cerebral** — HPO: HP:0012444
- **Anomia** — HPO: HP:0030784
- **Discinesia orofacial** — HPO: HP:0002310
- **Sinal de Babinski** — HPO: HP:0003487
- **Incontinência urinária** — HPO: HP:0000020
- **Rigidez** — HPO: HP:0002063
- **Mioclonias** — HPO: HP:0001336
- **Sinais de liberação frontal** — HPO: HP:0000743
- **Distonia** — HPO: HP:0001332
- **Disartria** — HPO: HP:0001260
- **Disfagia** — HPO: HP:0002015
- **Atrofia do músculo esquelético** — HPO: HP:0003202
- **Riso inapropriado** — HPO: HP:0000748
- **Demência do lobo frontal** — HPO: HP:0000727
- **Parkinsonismo** — HPO: HP:0001300
- **Motivação diminuída** — HPO: HP:0000745
- **Demência** — HPO: HP:0000726
- **Polifagia** — HPO: HP:0002591
- **Reflexo primitivo** — HPO: HP:0002476
- **Comportamento sexual inapropriado** — HPO: HP:0008768
- **Perda neuronal no sistema nervoso central** — HPO: HP:0002529
- **Esclerose lateral amiotrófica** — HPO: HP:0007354
- **Hiporreflexia** — HPO: HP:0001265
- **Paralisia bulbar** — HPO: HP:0001283
- **Comprometimento da linguagem** — HPO: HP:0002463
- **Morfologia anormal do neurônio motor inferior** — HPO: HP:0002366
- **Hiperreflexia** — HPO: HP:0001347 (Ocasional (29-5%))
- **Disgrafia** — HPO: HP:0010526 (Muito frequente (99-80%))
- **Irritabilidade** — HPO: HP:0000737 (Muito frequente (99-80%))
- **Demência frontotemporal** — HPO: HP:0002145 (Muito frequente (99-80%))
- **Falta de insight** — HPO: HP:0000757 (Muito frequente (99-80%))
- **Embotamento emocional** — HPO: HP:0030213 (Muito frequente (99-80%))
- **Tomografia por emissão de pósitrons com FDG cerebral anormal** — HPO: HP:0012658 (Frequente (79-30%))
- **Abulia** — HPO: HP:0012671 (Ocasional (29-5%))
- **Crise tônico-clônica bilateral** — HPO: HP:0002069 (Ocasional (29-5%))
- **Colecionismo** — HPO: HP:0030212 (Frequente (79-30%))
- _...e mais 31 sintomas. Ver https://raras.org/doenca/variante-comportamental-da-demencia-frontotemporal._

## Genes associados (9)

- **C9ORF72** — Guanine nucleotide exchange factor C9orf72 [Major susceptibility factor in]
  - Função: Acts as a guanine-nucleotide releasing factor (GEF) for Rab GTPases by promoting the conversion of inactive RAB-GDP to the active form RAB-GTP (PubMed:27103069, PubMed:27193190, PubMed:27617292, PubMe
- **TREM2** — Triggering receptor expressed on myeloid cells 2 [Major susceptibility factor in]
  - Função: Forms a receptor signaling complex with TYROBP which mediates signaling and cell activation following ligand binding (PubMed:10799849). Acts as a receptor for amyloid-beta protein 42, a cleavage produ
- **CHMP2B** — Charged multivesicular body protein 2b [Major susceptibility factor in]
  - Função: Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into
- **MAPT** — Microtubule-associated protein tau [Major susceptibility factor in]
  - Função: Promotes microtubule assembly and stability, and might be involved in the establishment and maintenance of neuronal polarity (PubMed:21985311). The C-terminus binds axonal microtubules while the N-ter
- **VCP** — Transitional endoplasmic reticulum ATPase [Major susceptibility factor in]
  - Função: Necessary for the fragmentation of Golgi stacks during mitosis and for their reassembly after mitosis. Involved in the formation of the transitional endoplasmic reticulum (tER). The transfer of membra
- **TMEM106B** — Transmembrane protein 106B [Major susceptibility factor in]
  - Função: In neurons, involved in the transport of late endosomes/lysosomes (PubMed:25066864). May be involved in dendrite morphogenesis and maintenance by regulating lysosomal trafficking (PubMed:25066864). Ma
- **PSEN1** — Presenilin-1 [Disease-causing germline mutation(s) in]
  - Função: Catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precurso
- **GRN** — Progranulin [Major susceptibility factor in]
  - Função: Secreted protein that acts as a key regulator of lysosomal function and as a growth factor involved in inflammation, wound healing and cell proliferation (PubMed:12526812, PubMed:18378771, PubMed:2807
- **SQSTM1** — Sequestosome-1 [Disease-causing germline mutation(s) in]
  - Função: Molecular adapter required for selective macroautophagy (aggrephagy) by acting as a bridge between polyubiquitinated proteins and autophagosomes (PubMed:15340068, PubMed:15953362, PubMed:16286508, Pub

## Ensaios clínicos ativos (12)

- **NCT07531732** [RECRUITING]: Links Between Self-awareness and Sociocognitive Processes in Neurodegenerative Diseases — https://clinicaltrials.gov/study/NCT07531732
- **NCT03174938** [RECRUITING]: The Swedish BioFINDER 2 Study — https://clinicaltrials.gov/study/NCT03174938
- **NCT06604520** [RECRUITING]: Vortioxetine for the Treatment of Mood and Cognitive Symptoms in Frontotemporal Dementia — https://clinicaltrials.gov/study/NCT06604520
- **NCT04747431** [RECRUITING]: A Study of PBFT02 in Participants With FTD and Mutations in the Granulin Precursor (GRN) or C9ORF72 Genes — https://clinicaltrials.gov/study/NCT04747431
- **NCT06618872** [RECRUITING]: Incremental Diagnostic Value of Tau-PET With [18F]RO948 vs Amyloid-PET in Patients With Cognitive Impairment — https://clinicaltrials.gov/study/NCT06618872
- **NCT05742698** [RECRUITING]: Nabilone for Agitation in Frontotemporal Dementia — https://clinicaltrials.gov/study/NCT05742698
- **NCT06706687** [RECRUITING]: A Study of the Behavioral Variant of Frontotemporal Dementia and Bipolar Disorder: a Neuroimaging and Epigenetics Integrated Approach — https://clinicaltrials.gov/study/NCT06706687
- **NCT04865172** [RECRUITING]: ECOCAPTURE for the Assessment of Apathy Under Real-life Conditions — https://clinicaltrials.gov/study/NCT04865172
- **NCT05617014** [ENROLLING_BY_INVITATION]: Alzheimer's Disease Neuroimaging Initiative 4 — https://clinicaltrials.gov/study/NCT05617014
- **NCT07234851** [ENROLLING_BY_INVITATION]: Understanding Mechanisms of Synaptic Degeneration Underlying Clinical Symptoms in Patients With MDs and NDs. — https://clinicaltrials.gov/study/NCT07234851

## Doenças relacionadas (por similaridade fenotípica)

- [Demência fronto-temporal](https://raras.org/doenca/demencia-fronto-temporal) — ORPHA:282 — 71 sintomas em comum
- [Afasia primária progressiva](https://raras.org/doenca/afasia-primaria-progressiva) — ORPHA:95432 — 41 sintomas em comum
- [Afasia, progressiva primária, tipo não-fluente](https://raras.org/doenca/afasia-progressiva-primaria-tipo-nao-fluente) — ORPHA:100070 — 40 sintomas em comum
- [Demência frontotemporal com doença do neurônio motor](https://raras.org/doenca/demencia-frontotemporal-com-doenca-do-neuronio-motor) — ORPHA:275872 — 28 sintomas em comum
- [Afasia, progressiva primária, tipo fluente](https://raras.org/doenca/afasia-progressiva-primaria-tipo-fluente) — ORPHA:100069 — 26 sintomas em comum
- [NÃO RARA NA EUROPA: Doença de Parkinson](https://raras.org/doenca/nao-rara-na-europa-doenca-de-parkinson) — ORPHA:319705 — 25 sintomas em comum
- [Lipofuscinose ceroide neuronal](https://raras.org/doenca/lipofuscinose-ceroide-neuronal) — ORPHA:216 — 24 sintomas em comum
- [Paralisia oculomotora supranuclear](https://raras.org/doenca/paralisia-oculomotora-supranuclear) — ORPHA:98687 — 24 sintomas em comum
- [Paresia supranuclear progressiva](https://raras.org/doenca/paresia-supranuclear-progressiva) — ORPHA:683 — 24 sintomas em comum
- [Gangliosidose GM2](https://raras.org/doenca/gangliosidose-gm2) — ORPHA:309152 — 23 sintomas em comum

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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**Citação sugerida**: Raras.org — Variante comportamental da demência frontotemporal. Disponível em: https://raras.org/doenca/variante-comportamental-da-demencia-frontotemporal
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