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behavioral variant of frontotemporal dementia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

behavioral variant of frontotemporal dementia

MONDO:0017160

Also known as:bv-FTD

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Overview

Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy.

Clinical Trials9 registered · 3 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

CHMP2B frontotemporal dementia (CHMP2B-FTD) is an early-onset dementia affecting primarily frontal lobe functions. CHMP2B-FTD typically starts with subtle personality changes, behavioral changes, dyscalculia, and a dysexecutive syndrome . To date, CHMP2B-FTD has been described in a family that originates and resides in western Jutland, Denmark. The first description of this family was by . CHMP2B-FTD has also been described in an affected individual with familial FTD from Belgium . In addition, one individual from the United Kingdom with FTD and no clear family history was reported to have a CHMP2B missense variant . Symptoms usually start between ages 46 and 70 years, with an average age of onset of 57 years. Disease duration is from three to more than 20 years.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

CHMP2B frontotemporal dementia (CHMP2B-FTD) should be suspected in individuals with the following:

Source: GeneReviews — "CHMP2B Frontotemporal Dementia"

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for behavioral variant of frontotemporal dementia. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with CHMP2B frontotemporal dementia (CHMP2B-FTD), the following evaluations (if not performed as part of the evaluation that led to the diagnosis) are recommended:

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Members of the Danish family with CHMP2B-FTD are followed in the Copenhagen Memory Disorders Clinic, a multidisciplinary clinic involving neurologic and psychiatric services, genetic counseling, molecular genetic testing, and clinical diagnostic and follow-up medical service.

Source: GeneReviews — "CHMP2B Frontotemporal Dementia"

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

9 clinical trials registered, 3 recruiting. Interventions under study include drug therapy, other interventions, and procedural interventions. Pipeline includes 2 PHASE2, 1 PHASE1, 2 NA. Research is sponsored by a mix of industry and academic institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT05457998](https://clinicaltrials.gov/study/NCT05457998)

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:275864

GARD

Genetic and Rare Diseases Info Center

GARD:7392

Questions for Your Care Team

→Are any of the 9 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Differential Diagnosis

Pathogenic variants in CHMP2B have been identified in one large Danish family with frontotemporal dementia and in an affected individual with familial frontotemporal dementia (FTD) from Belgium . (A CHMP2B missense variant in one individual from the United Kingdom with FTD and no clear family history was also reported ). Pathogenic variants in CHMP2B are considered to be a much rarer cause of frontotemporal dementia than pathogenic variants in MAPT (encoding tau), GRN (encoding progranulin), or C9orf72. Table 2. Genes of Interest in the Differential Diagnosis of CHMP2B Frontotemporal Dementia (CHMP2B-FTD)

Gene(s)	DiffDx Disorder	MOI	Clinical Features of DiffDx Disorder
Overlapping w/CHMP2B-FTD	Distinguishing from CHMP2B-FTD APPPSEN1PSEN21	Early-onset familial Alzheimer disease (EOFAD)	AD
C9orf72-ALS/FTD	AD	Adult-onset rapidly progressive features of FTD, ALS, or a combination of both	May not be clinically distinguishable; Psychotic symptoms more common in C9orf72-ALS/FTD
FUS	ALS 6 w/or w/o FTD	AD	MND w/FTD
Incomplete penetrance GBA1 (GBA)SNCASNCB	Lewy body dementia (OMIM 127750)	AD	Dementia; Extrapyramidal signs (rigidity, bradykinesia)
GRN-FTD	AD	Adult-onset behavioral-variant FTD; Parietal cortex basal ganglia may be affected as well, resulting in parkinsonism, cortical basal syndrome, memory impairment; Age of onset: 48-83 yrs	Clinically indistinguishable; Metabolic changes (on FDG-PET) preceding structural changes of frontal atrophy (on MRI) HTT
Huntington disease	AD	Changes in personality (apathy or depression); Cognitive decline; Dementia; Dystonia	Chorea; Delusions; Visual hallucinations MAPT
FTD w/parkinsonism-17	AD	Adult-onset behavioral variant FTD; Extrapyramidal signs (rigidity, bradykinesia, supranuclear palsy, saccadic eye movement disorders); Symptoms usually start at ages 40-60 yrs but may occur earlier or later.; Disease progresses over few yrs to profound dementia w/mutism.	Clinically indistinguishable; Onset before 5th decade; Metabolic changes (on FDG-PET) preceding structural changes of frontal atrophy (on MRI)
TARDBP	TARDBP frontotemporal lobar degeneration (See TARDBP-ALS-FTD.)	AD	Adult-onset behavioral variant FTD; Generalized cerebral atrophy on MRI
TBK1	FTD /or ALS 4 (OMIM 616439)	AD	Adult-onset behavioral variant FTD; Disinh...

Source: GeneReviews — "CHMP2B Frontotemporal Dementia"

Research Type	Count	% of Total
Laboratory research	14	29%
Testing and diagnosis research	11	23%
Patient case studies	11	23%
Research summaries	7	15%
Disease patterns and progression	4	8%
Clinical study results	1	2%

Kisho

behavioral variant of frontotemporal dementia

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Treatment of Manifestations

Therapies Under Investigation

Clinical Trials

Recent Publications

behavioral variant of frontotemporal dementia

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Treatment of Manifestations

Therapies Under Investigation

Clinical Trials

Recent Publications