Hereditary frontotemporal dementia is linked to chromosome 17q21-q22: A genetic and clinicopathological study of three Dutch families

被引:142
|
作者
Heutink, P
Stevens, M
Rizzu, P
Bakker, E
Kros, JM
Tibben, A
Niermeijer, MF
vanDuijn, CM
Oostra, BA
vanSwieten, JC
机构
[1] UNIV ROTTERDAM HOSP,DEPT CLIN GENET,ROTTERDAM,NETHERLANDS
[2] UNIV ROTTERDAM HOSP,DEPT NEUROL,ROTTERDAM,NETHERLANDS
[3] UNIV ROTTERDAM HOSP,DEPT EPIDEMIOL & BIOSTAT,ROTTERDAM,NETHERLANDS
[4] UNIV ROTTERDAM HOSP,DEPT PATHOL,ROTTERDAM,NETHERLANDS
[5] ERASMUS UNIV ROTTERDAM,ROTTERDAM,NETHERLANDS
[6] LEIDEN UNIV,DEPT HUMAN GENET,NL-2300 RA LEIDEN,NETHERLANDS
关键词
D O I
10.1002/ana.410410205
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Hereditary frontotemporal dementia (HFTD) is a rare autosomal dominant form of presenile dementia characterized by behavioral changes and reduced speech. Three multigeneration kindreds with this condition, in the Netherlands, were investigated for clinicopathological comparison and linkage analysis. Frontotemporal atrophy on computed tomographic scanning and/or magnetic resonance imaging was usually present. Single-photon emission computed tomography (SPECT) showed frontal hypoperfusion in the early phase of the disease. Brain tissue showed moderate to severe atrophy of frontal and temporal cortex with neuronal loss, gliosis, and spongiosis. Pick bodies were lacking in all cases of the 3 families. The mean age of onset varied significantly between families. We report here evidence for linkage to chromosome 17q21-q22 with a maximum lod score of 4.70 at Theta = 0.05 with the marker D17S932. Recombination analysis positions the gene for HFTD in a region of approximately 5 cM between markers D17S946 and D17S791. Three other neurodegenerative disorders with a strong clinical and pathological resemblance have recently been mapped to the same chromosomal region, suggesting that a group of clinically related neurodegenerative disorders may originate from mutations in the same gene.
引用
收藏
页码:150 / 159
页数:10
相关论文
共 50 条
  • [11] Brain tau and neurofilament proteins in a Swiss family with frontotemporal dementia unlinked to chromosome 17q21-22
    Leuba, G
    Riederer, M
    Riederer, IM
    Heutink, P
    Tolnay, M
    Probst, A
    Kövari, E
    Bouras, C
    Savioz, A
    NEUROBIOLOGY OF AGING, 2002, 23 (01) : S58 - S58
  • [12] Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
    Cruts, Marc
    Gijselinck, Ilse
    van der Zee, Julie
    Engelborghs, Sebastiaan
    Wils, Hans
    Pirici, Daniel
    Rademakers, Rosa
    Vandenberghe, Rik
    Dermaut, Bart
    Martin, Jean-Jacques
    van Duijn, Cornelia
    Peeters, Karin
    Sciot, Raf
    Santens, Patrick
    De Pooter, Tim
    Mattheijssens, Maria
    Van den Broeck, Marleen
    Cuijt, Ivy
    Vennekens, Krist'l
    De Deyn, Peter P.
    Kumar-Singh, Samir
    Van Broeckhoven, Christine
    NATURE, 2006, 442 (7105) : 920 - 924
  • [13] Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
    Marc Cruts
    Ilse Gijselinck
    Julie van der Zee
    Sebastiaan Engelborghs
    Hans Wils
    Daniel Pirici
    Rosa Rademakers
    Rik Vandenberghe
    Bart Dermaut
    Jean-Jacques Martin
    Cornelia van Duijn
    Karin Peeters
    Raf Sciot
    Patrick Santens
    Tim De Pooter
    Maria Mattheijssens
    Marleen Van den Broeck
    Ivy Cuijt
    Krist'l Vennekens
    Peter P. De Deyn
    Samir Kumar-Singh
    Christine Van Broeckhoven
    Nature, 2006, 442 : 920 - 924
  • [14] Bad neighbors cause dementia; a second 17q21-linked gene responsible for frontotemporal dementia
    Neal, S. J.
    Leavitt, B. R.
    CLINICAL GENETICS, 2006, 70 (05) : 385 - 387
  • [15] The clinical spectrum of chromosome 17q21-22-linked degenerative syndromes
    Wilhelmsen, KC
    Wszolek, ZK
    Currier, RC
    Lanska, DJ
    NEUROLOGY, 1996, 46 (02) : 2066 - 2066
  • [16] Mapping of a disease locus for familial rapidly progressive frontotemporal dementia to chromosome 17q12-21
    Froelich, S
    Basun, H
    Forsell, C
    Lilius, L
    Axelman, K
    Andreadis, A
    Lannfelt, L
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1997, 74 (04): : 380 - 385
  • [17] Chromosome 17q22-q24 and multiple sclerosis genetic susceptibility
    Fontaine, B
    Cournu, I
    Arnaud, I
    Babron, MC
    Eichenbaum-Voline, S
    Oksenberg, JR
    Pericak-Vance, MA
    Haines, JL
    Semama, G
    Liblau, R
    Lyon-Caen, O
    Clerget-Darpoux, F
    Clanet, M
    Hauser, SL
    GENES AND IMMUNITY, 1999, 1 (02) : 149 - 150
  • [18] No evidence of linkage to chromosome 9q21-22 in a Swedish family with frontotemporal dementia and amyotrophic lateral sclerosis
    Ostojic, J
    Axelman, K
    Lannfelt, L
    Froelich-Fabre, S
    NEUROSCIENCE LETTERS, 2003, 340 (03) : 245 - 247
  • [19] 2 LARGE PARKINSONIAN KINDREDS LINKED TO WLD LOCUS ON CHROMOSOME-17Q-21-22
    WILHELMSEN, KC
    LYNCH, T
    ARWERT, F
    WSZOLEK, Z
    ANNALS OF NEUROLOGY, 1995, 38 (02) : 301 - 301
  • [20] A FREQUENT POLYMORPHISM FOR THE CYTOSOLIC THYMIDINE KINASE GENE, TK1, (17Q21-Q22) DETECTED BY THE ENZYME TAQI
    MURPHY, PD
    KIDD, JR
    CASTIGLIONE, CM
    LIN, PF
    RUDDLE, FH
    KIDD, KK
    NUCLEIC ACIDS RESEARCH, 1986, 14 (10) : 4381 - 4381