Frontotemporal dementia and parkinsonism linked to chromosome 17

Autosomal dominant - en

Frontotemporal Dementia and Parkinsonism linked to chromosome 17 (FTDP-17) is a rare genetic disorder that affects the brain, leading to a range of symptoms including behavioral and personality changes, cognitive impairment, and motor symptoms reminiscent of Parkinson's disease. This condition is caused by mutations in the MAPT gene, which encodes the tau protein, a substance that stabilizes microtubules in the neurons. The mutations lead to the accumulation of abnormal tau proteins in the brain, causing neuronal damage and the characteristic symptoms of the disease.

Symptoms and Diagnosis

The symptoms of FTDP-17 can vary widely among affected individuals but generally include changes in behavior and personality, difficulties with language, and movement disorders. The behavioral and cognitive symptoms often present as frontotemporal dementia (FTD), while the motor symptoms may resemble those of Parkinson's disease or progressive supranuclear palsy (PSP). Diagnosis is based on clinical evaluation, family history, genetic testing for mutations in the MAPT gene, and imaging studies such as MRI scans of the brain.

Genetics

FTDP-17 is inherited in an autosomal dominant manner, meaning that only one copy of the mutated gene inherited from an affected parent is sufficient to cause the disorder. The MAPT gene mutations associated with FTDP-17 lead to the production of abnormal tau proteins. Tau proteins are crucial for the stability of microtubules in nerve cells, and their dysfunction results in the formation of tau tangles within neurons, a hallmark of several neurodegenerative diseases, including FTDP-17 and Alzheimer's disease.

Treatment and Management

There is currently no cure for FTDP-17, and treatment focuses on managing symptoms and improving quality of life. This may include medications to address specific symptoms such as antidepressants for behavioral changes or drugs to manage Parkinsonism. Physical therapy, occupational therapy, and speech therapy can also be beneficial in managing the motor symptoms and cognitive decline associated with the disease.

Research

Research into FTDP-17 is ongoing, with studies aimed at understanding the underlying mechanisms of tau pathology, developing animal models to study the disease, and exploring potential therapeutic approaches. Advances in genetic therapy and drugs targeting tau protein accumulation are areas of particular interest.

See Also

• Frontotemporal dementia
• Parkinson's disease
• Tauopathy
• Genetic disorders
• Neurodegenerative diseases