Frontotemporal Dementia with Parkinsonism Presenting as Posterior Cortical Atrophy

    May 2011 in “ Movement Disorders ”
    Fabio Spagnolo, Daniela Ceppi, Rosalinda Cardamone, Monica Falautano, Vittorio Martinelli, Gıancarlo Comı, Daniela Perani, Maria Antonietta Volontè
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    TLDR A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
    The document from 2011 includes two separate studies. The first study describes a 55-year-old woman with a unique presentation of frontotemporal dementia with parkinsonism (FTDP-17) initially diagnosed as posterior cortical atrophy (PCA) due to her symptoms and brain imaging results. A mutation in the MAPT gene confirmed the diagnosis of FTDP-17, making this the first reported case of FTDP-17 presenting as PCA. The second study focuses on the penetrance of the LRRK2 G2019S mutation in Parkinson's disease, involving 2,000 patients and 154 first-degree relatives. The study found a penetrance of 12% at age 60, 23% at age 70, and 33% at age 80, indicating that the lifetime risk of developing PD with this mutation is usually not more than 25% to 35%. Additionally, the document briefly mentions a preliminary study on the use of finasteride in Tourette syndrome, which involved 10 patients and showed significant reductions in tic severity and obsessive-compulsive symptoms, suggesting finasteride as a potential treatment option.
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