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Published on: October 13, 2016
[FTDP-17 presenting amnestic MCI as an initial symptom: case report]
Yumiko Kutoku1, Yuko Miyazaki, Yozo Yamashita
1Department of Neurology, Kawasaki Medical School.
Rinsho Shinkeigaku = Clinical Neurology
|February 23, 2012
Summary
A MAPT gene mutation can initially present as amnestic mild cognitive impairment (MCI), challenging its typical association with Alzheimer's disease. Early DNA analysis is crucial for diagnosing diverse forms of frontotemporal dementia (FTDP-17).
Area of Science:
- Neurology
- Genetics
- Neuroimaging
Background:
- Mild cognitive impairment (MCI) is often considered a precursor to Alzheimer's disease.
- Frontotemporal dementia (FTD) encompasses a group of disorders affecting behavior, personality, and language.
- The MAPT gene provides instructions for making the tau protein, crucial for neuronal function.
Observation:
- A 46-year-old woman presented with amnestic MCI, characterized by memory disturbance but preserved general cognition.
- Brain imaging revealed hippocampal, superior parietal lobule, and posterior cingulate gyrus hypoperfusion and atrophy.
- Five years later, she developed personality changes, parkinsonism, and dementia, suggesting a progressive neurodegenerative condition.
Findings:
- Genetic analysis identified an intronic mutation (IVS10 C>T) in the MAPT gene.
- The patient's sisters also carried the same mutation, with one exhibiting typical FTD without parkinsonism.
- This case highlights that amnestic MCI can be an initial symptom of MAPT-related dementia (FTDP-17).
Implications:
- The clinical presentation of MAPT mutations can be highly variable, including amnestic MCI.
- Distinguishing FTDP-17 from Alzheimer's disease requires genetic testing due to overlapping initial symptoms.
- Early genetic diagnosis is essential for accurate prognostication and management of patients with suspected FTDP-17.
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