Penetrance

Penetrance is age dependent and appears to be nearly complete in the Danish family.

Source: GeneReviews — "CHMP2B Frontotemporal Dementia"

Diagnostic Criteria

Suggestive Findings

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

Source: GeneReviews — "CHMP2B Frontotemporal Dementia"

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)

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:

• A general medical history and family history

• Physical and neurologic examination

• Evaluation of the extent and profile of cognitive disturbance by neuropsychological examination

• Discussion of capabilities for job and for driving

• Consultation with a clinical geneticist and/or genetic counselor

• Discussion of advanced care planning

Treatment of Manifestations

Behavioral changes and the loss of insight and judgment in individuals with CHMP2B-FTD often present a considerable burden for caregivers. Information about the disease and psychological support for partners or other caregivers is essential. Caregiver support groups are valuable. Psychosocial support is essential in the management of FTD and should include occupational therapy and environmental and physical interventions. The behavioral and psychological symptoms should be treated as in other types of FTD. There is no consensus treatment guideline for CHMP2B-FTD. In clinical practice those affected individuals who present with very aggressive symptoms have proven quite difficult to treat and in some instances have been treated with high doses of antipsychotics and/or antidepressants in order to relieve the physical aggressiveness.

Source: GeneReviews — "CHMP2B Frontotemporal Dementia"

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for information on clinical studies for a wide range of diseases and conditions.

Source: GeneReviews — "CHMP2B Frontotemporal Dementia"

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"