Frontotemporal dementia-amyotrophic lateral sclerosis complex is simulated by neurodegeneration with brain iron accumulation.
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.
Santillo
Alexander Frizell
AF
Department of Public Health/Geriatrics, Uppsala University, Science Park, Uppsala, Sweden. alexander.frizell.santillo@pubcare.uu.se
Skoglund
Lena
L
Lindau
Maria
M
Eeg-Olofsson
Karin Edebol
KE
Tovi
Metin
M
Engler
Henry
H
Brundin
Rose-Marie
RM
Ingvast
Sofie
S
Lannfelt
Lars
L
Glaser
Anna
A
Kilander
Lena
L
D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000503:physiopathology*; D001921:Brain / Q000378:metabolism / Q000473:pathology*; D003937:Diagnosis, Differential; D004576:Electromyography; D057180:Frontotemporal Dementia / Q000503:physiopathology*; D006801:Humans; D007501:Iron / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D008297:Male; D009483:Neuropsychological Tests; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000175:diagnosis / Q000473:pathology / Q000503:physiopathology*; D010375:Pedigree; D049268:Positron-Emission Tomography
D007501:Iron