Genetic Alzheimer Disease and Sporadic Dementia With Lewy Bodies: A Comorbidity Presenting as Primary Progressive Aphasia

被引:1
作者
Pickova, Tereza [1 ]
Matej, Radoslav [1 ,2 ,3 ]
Bezdicek, Ondrej [1 ]
Keller, Jiri [5 ,6 ]
van der Zee, Julie [7 ,8 ]
Van Broeckhoven, Christine [7 ,8 ]
Csefalvay, Zsolt [9 ,10 ]
Rusina, Robert [1 ,3 ,4 ]
机构
[1] Ctr Clin Neuro Sci, Dept Neurol, Prague, Czech Republic
[2] Charles Univ Prague, Fac Med 1, Dept Pathol, Prague, Czech Republic
[3] Gen Univ Hosp, Prague, Czech Republic
[4] Thomayer Hosp, Dept Pathol, Prague, Czech Republic
[5] Thomayer Hosp, Dept Mol Med & Neurol, Prague, Czech Republic
[6] Na Homolce Hosp, Dept Radiol, Prague, Czech Republic
[7] Charles Univ Prague, Fac Med 3, Dept Neurol, Prague, Czech Republic
[8] VIB, Ctr Mol Neurol, Neurodegenerat Brain Dis Grp, Antwerp, Belgium
[9] Univ Antwerp, Inst Born Bunge, Neurogenet Lab, Antwerp, Belgium
[10] Comenius Univ, Fac Educ, Dept Commun Disorders, Bratislava, Slovakia
关键词
Alzheimer disease; dementia with Lewy bodies; primary progressive aphasia; alpha-synuclein; FUNCTIONAL-ACTIVITIES; CZECH VERSION; PATHOLOGY; VALIDATION; MUTATION; APRAXIA;
D O I
暂无
中图分类号
B84 [心理学]; C [社会科学总论]; Q98 [人类学];
学科分类号
03 ; 0303 ; 030303 ; 04 ; 0402 ;
摘要
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.
引用
收藏
页码:23 / 29
页数:7
相关论文
共 29 条
  • [11] National Institute on Aging-Alzheimer's Association guidelines for the neuropathologic assessment of Alzheimer's disease
    Hyman, Bradley T.
    Phelps, Creighton H.
    Beach, Thomas G.
    Bigio, Eileen H.
    Cairns, Nigel J.
    Carrillo, Maria C.
    Dickson, Dennis W.
    Duyckaerts, Charles
    Frosch, Matthew P.
    Masliah, Eliezer
    Mirra, Suzanne S.
    Nelson, Peter T.
    Schneider, Julie A.
    Thal, Dietmar Rudolf
    Thies, Bill
    Trojanowski, John Q.
    Vinters, Harry V.
    Montine, Thomas J.
    [J]. ALZHEIMERS & DEMENTIA, 2012, 8 (01) : 1 - 13
  • [12] Early onset familial Alzheimer's disease - Mutation frequency in 31 families
    Janssen, JC
    Beck, JA
    Campbell, TA
    Dickinson, A
    Fox, NC
    Harvey, RJ
    Houlden, H
    Rossor, MN
    Collinge, J
    [J]. NEUROLOGY, 2003, 60 (02) : 235 - 239
  • [13] Towards a Clearer Definition of Logopenic Progressive Aphasia
    Leyton, Cristian E.
    Hodges, John R.
    [J]. CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS, 2013, 13 (11)
  • [14] Early-onset Alzheimer's Disease: Nonamnestic Subtypes and Type 2 AD
    Mendez, Mario F.
    [J]. ARCHIVES OF MEDICAL RESEARCH, 2012, 43 (08) : 677 - 685
  • [15] Alzheimer and frontotemporal pathology in subsets of primary progressive aphasia
    Mesulam, Marsel
    Wicklund, Alissa
    Johnson, Nancy
    Rogalski, Emily
    Leger, Gabriel C.
    Rademaker, Alfred
    Weintraub, Sandra
    Bigio, Eileen H.
    [J]. ANNALS OF NEUROLOGY, 2008, 63 (06) : 709 - 719
  • [16] Mesulam MM, 2001, ANN NEUROL, V49, P425, DOI 10.1002/ana.91.abs
  • [17] Nikolai T, 2015, CESK SLOV NEUROL N, V78, P292
  • [18] MEASUREMENT OF FUNCTIONAL ACTIVITIES IN OLDER ADULTS IN THE COMMUNITY
    PFEFFER, RI
    KUROSAKI, TT
    HARRAH, CH
    CHANCE, JM
    FILOS, S
    [J]. JOURNALS OF GERONTOLOGY, 1982, 37 (03): : 323 - 329
  • [19] Prevalence of mixed pathologies in the aging brain
    Rahimi, Jasmin
    Kovacs, Gabor G.
    [J]. ALZHEIMERS RESEARCH & THERAPY, 2014, 6 (09):
  • [20] CLOX: an executive clock drawing task
    Royall, DR
    Cordes, JA
    Polk, M
    [J]. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1998, 64 (05) : 588 - 594