Genetic Alzheimer Disease and Sporadic Dementia With Lewy Bodies: A Comorbidity Presenting as Primary Progressive Aphasia.
We report a 44-year-old woman, with a family history of early-onset dementia, presenting with primary progressive aphasia. This clinically variable syndrome has multiple underlying pathologies, and correlations between clinical manifestations and postmortem neuropathologic findings are controversial. Our patient suffered worsening language impairment with major word-finding difficulties but preserved comprehension. She also developed episodic memory impairment. Her condition progressed to dementia with behavioral changes. Magnetic resonance imaging showed early left perisylvian and bitemporal atrophy. The patient died shortly afterward from colon cancer. Neuropathologic examination revealed advanced early-onset Alzheimer and Lewy body disease, plus a clinically nonrelevant metastasis of her colon cancer in her left parietal lobe. Genetic examination revealed a p.Glu184Asp mutation in the presenilin1 gene. Our findings confirm the importance of a thorough appreciation for the clinical and neuropathologic correlations in patients with atypical neurodegenerative dementias.
*Department of Neurology and Centre of Clinical Neuroscience, and ‡Department of Pathology, First Faculty of Medicine, Charles University, and General University Hospital, Prague, Czech Republic Departments of †Pathology and Molecular Medicine and ††Neurology, Thomayer Hospital, Prague, Czech Republic §Department of Radiology, Na Homolce Hospital, Prague, Czech Republic ∥Department of Neurology, Third Faculty of Medicine, Charles University, Prague, Czech Republic ¶Neurodegenerative Brain Diseases group, Center for Molecular Neurology, VIB, Antwerp, Belgium #Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium **Department of Communication Disorders, Faculty of Education, Comenius University, Bratislava, Slovakia.
Tereza
T
Picková
Radoslav
R
Matěj
Ondrej
O
Bezdicek
Jiří
J
Keller
Julie
J
van der Zee
Christine
C
Van Broeckhoven
Zsolt
Z
Cséfalvay
Robert
R
Rusina
D000328:Adult; D000544:Alzheimer Disease / Q000150:complications* / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D018888:Aphasia, Primary Progressive / Q000175:diagnosis / Q000209:etiology* / Q000473:pathology; D001921:Brain / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D020961:Lewy Body Disease / Q000150:complications* / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D016501:Neurites / Q000473:pathology; D016874:Neurofibrillary Tangles / Q000473:pathology; D009483:Neuropsychological Tests; D053764:Presenilin-1 / Q000235:genetics
C508853:PSEN1 protein, human; D053764:Presenilin-1