What is it about?

Frontal, temporal lobe dementia (FTD) and amyotrophic lateral sclerosis(ALS) are fatal neurodegenerative diseases. Studies have found that CCNF mutations have been found in patients with familial and sporadic ALS and FTD. Behavioural variant frontotemporal dementia (bvFTD) is a clinical syndrome characterized by progressive deterioration of personality, social behaviour,and cognitive function, which is most closely related to genetic factors. As the early symptoms of bvFTD are highly heterogeneous, the condition is often misdiagnosed as Alzheimer's disease or psychiatric disorders. In this study, a bvFTD patient had a CCNF gene mutation, which led to ubiquitinated protein accumulation and ultimately caused neurodegenerative disease. Genetic detection should be improved urgently for bvFTD patients and family members to provide a linical reference for early diagnosis of frontotemporal dementia.

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Why is it important?

For diseases closely related to genes, genetic testing of other family members should be optimised as much as possible to allow early diagnosis and intervention and guide fertility in the next generation.


This article is written because the early clinical manifestations of bvFTD are complicated and changeable, which is easy to be misdiagnosed and delayed treatment.Therefore, for patients with a high clinical suspicion of FTD, in addition to a detailed understanding of their medical history and family history and improvement of relevant examinations, genetic testing should be performed as early as possible to help confirm the diagnosis.

Cai Jing

Read the Original

This page is a summary of: Behavioural Variant Frontotemporal Dementia due to CCNF Gene Mutation: A Case Report, Current Alzheimer Research, May 2023, Bentham Science Publishers,
DOI: 10.2174/1567205020666230811092906.
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