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  • 1.
    Santillo, Alexander Frizell
    et al.
    Uppsala Univ, Dept Publ Hlth Geriatr, Uppsala 75185, Sweden.
    Skoglund, Lena
    Uppsala Univ, Dept Publ Hlth Geriatr, Uppsala 75185, Sweden.
    Lindau, Maria
    Uppsala Univ, Dept Publ Hlth Geriatr, Uppsala 75185, Sweden.
    Eeg-Olofsson, Karin Edebol
    Uppsala Univ, Dept Neurosci Clin Neurophysiol, Uppsala 75185, Sweden.
    Tovi, Metin
    Karolinska Univ Hosp, Dept Diagnost Radiol, Stockholm, Sweden.
    Engler, Henry
    Uppsala Univ, Dept Med Sci Clin Physiol, Uppsala 75185, Sweden.
    Brundin, Rose-Marie
    Uppsala Univ, Dept Publ Hlth Geriatr, Uppsala 75185, Sweden.
    Ingvast, Sofie
    Uppsala Univ, Dept Publ Hlth Geriatr, Uppsala 75185, Sweden.
    Lannfelt, Lars
    Uppsala Univ, Dept Publ Hlth Geriatr, Uppsala 75185, Sweden.
    Glaser, Anna
    Uppsala Univ, Dept Publ Hlth Geriatr, Uppsala 75185, Sweden.
    Kilander, Lena
    Uppsala Univ, Dept Publ Hlth Geriatr, Uppsala 75185, Sweden.
    Frontotemporal Dementia-amyotrophic Lateral Sclerosis Complex is Simulated by Neurodegeneration With Brain Iron Accumulation2009In: Alzheimer Disease and Associated Disorders, ISSN 0893-0341, E-ISSN 1546-4156, Vol. 23, no 3, p. 298-300Article in journal (Refereed)
    Abstract [en]

    We describe a case of late onset neurodegeneration with brain iron accumulation (NBIA) presenting as frontotemporal dementia (FTD) with amyotrophic lateral sclerosis (ALS). A male patient presented at age 66 with change of personality: disinhibition, emotional blunting, and socially inappropriate behavior, coupled with dysarthria, dystonia, and corticospinal tract involvement. Magnetic resonance imaging showed general cortical atrophy, iron deposits in the globus pallidus, and the “eye of the tiger” sign. Neuropsychologic performance was globally reduced, especially executive functions. Fluorodeoxyglucose positron emission tomography showed hypometabolism predominantly in frontal and temporal areas. Repeated neurophysiologic examinations showed signs of chronic denervation. The patient was diagnosed with NBIA but fulfilled consensus criteria for FTD and had a clinical picture of ALS, without neurophysiologic confirmation. Our finding introduces NBIA as a possible cause of FTD and as a differential diagnosis of the FTD-ALS complex.

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