Molecular genetic characterisation of frontotemporal dementia on chromosome 3

被引:25
作者
Ashworth, A
Lloyd, S
Brown, J
Gydesen, S
Sorensen, SA
Brun, A
Englund, E
Humphreys, C
Housman, D
Badura, M
Stanton, V
Taylor, K
Cameron, J
Munroe, D
Johansson, J
Rossor, M
Fisher, EMC
Collinge, J
机构
[1] Univ London Imperial Coll Sci Technol & Med, Sch Med, Dept Neurogenet, London W2 1PG, England
[2] Queen Elizabeth Hosp, Kings Lynn, England
[3] Addenbrookes Hosp, Dept Neurol, Cambridge, England
[4] Univ Copenhagen, Panum Inst, Dept Med Genet, DK-1168 Copenhagen, Denmark
[5] Univ Lund Hosp, Dept Neuropathol, S-22185 Lund, Sweden
[6] MIT, Ctr Canc Res, Cambridge, MA 02139 USA
[7] UCL, Dept Genet, London WC1E 6BT, England
[8] Sequana Therapeut Inc, La Jolla, CA USA
[9] Umea Univ Hosp, Dept Clin Genet, S-90185 Umea, Sweden
[10] St Marys Hosp, Dept Neurol, London, England
关键词
frontal robe dementia; familial nonspecific dementia; anticipation; trinucleotide repeat;
D O I
10.1159/000051222
中图分类号
R592 [老年病学]; C [社会科学总论];
学科分类号
03 ; 0303 ; 100203 ;
摘要
We have previously localized a locus causing familial nonspecific dementia to the centromeric region of chromosome 3 in a pedigree from the Jutland area of Denmark. Th is pedigree shows anticipation. Here we present further analysis of these anticipation data which are suggestive of trinucleotide repeat expansion involvement. We also outline our strategies to clone the mutant gene via its putative associated trinucleotide repeat sequence.
引用
收藏
页码:93 / 101
页数:9
相关论文
共 41 条
[1]   FRONTAL-LOBE OR NONSPECIFIC DEMENTIAS ARE GENETICALLY HETEROGENEOUS [J].
ASHWORTH, A ;
BROWN, J ;
GYDESEN, S ;
SORENSEN, SA ;
ROSSOR, MN ;
HARDY, J ;
COLLINGE, J .
NEUROLOGY, 1995, 45 (09) :1781-1781
[2]   MOLECULAR-BASIS OF MYOTONIC-DYSTROPHY - EXPANSION OF A TRINUCLEOTIDE (CTG) REPEAT AT THE 3' END OF A TRANSCRIPT ENCODING A PROTEIN-KINASE FAMILY MEMBER [J].
BROOK, JD ;
MCCURRACH, ME ;
HARLEY, HG ;
BUCKLER, AJ ;
CHURCH, D ;
ABURATANI, H ;
HUNTER, K ;
STANTON, VP ;
THIRION, JP ;
HUDSON, T ;
SOHN, R ;
ZEMELMAN, B ;
SNELL, RG ;
RUNDLE, SA ;
CROW, S ;
DAVIES, J ;
SHELBOURNE, P ;
BUXTON, J ;
JONES, C ;
JUVONEN, V ;
JOHNSON, K ;
HARPER, PS ;
SHAW, DJ ;
HOUSMAN, DE .
CELL, 1992, 68 (04) :799-808
[3]   FAMILIAL NONSPECIFIC DEMENTIA MAPS TO CHROMOSOME-3 [J].
BROWN, J ;
ASHWORTH, A ;
GYDESEN, S ;
SORENSEN, A ;
ROSSOR, M ;
HARDY, J ;
COLLINGE, J .
HUMAN MOLECULAR GENETICS, 1995, 4 (09) :1625-1628
[4]   GENETIC-CHARACTERIZATION OF A FAMILIAL NONSPECIFIC DEMENTIA ORIGINATING IN JUTLAND, DENMARK [J].
BROWN, J ;
GYDESEN, S ;
SORENSEN, SA ;
BRUN, A ;
SMITH, S ;
HOULDEN, H ;
TWELLS, R ;
MULLAN, M ;
ROSSOR, M ;
COLLINGE, J ;
PALMER, M ;
GOATE, A ;
HARDY, J .
JOURNAL OF THE NEUROLOGICAL SCIENCES, 1993, 114 (02) :138-143
[5]  
BRUN A, 1994, J NEUROL NEUROSUR PS, V57, P416
[6]   Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes [J].
Campuzano, V ;
Montermini, L ;
Lutz, Y ;
Cova, L ;
Hindelang, C ;
Jiralerspong, S ;
Trottier, Y ;
Kish, SJ ;
Faucheux, B ;
Trouillas, P ;
Authier, FJ ;
Durr, A ;
Mandel, JL ;
Vescovi, A ;
Pandolfo, M ;
Koenig, M .
HUMAN MOLECULAR GENETICS, 1997, 6 (11) :1771-1780
[7]   Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7) [J].
David, G ;
Dürr, A ;
Stevanin, G ;
Cancel, G ;
Abbas, N ;
Benomar, A ;
Belal, S ;
Lebre, AS ;
Abada-Bendib, M ;
Grid, D ;
Holmberg, M ;
Yahyaoui, M ;
Hentati, F ;
Chkili, T ;
Agid, Y ;
Brice, A .
HUMAN MOLECULAR GENETICS, 1998, 7 (02) :165-170
[8]   Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation [J].
Davies, SW ;
Turmaine, M ;
Cozens, BA ;
DiFiglia, M ;
Sharp, AH ;
Ross, CA ;
Scherzinger, E ;
Wanker, EE ;
Mangiarini, L ;
Bates, GP .
CELL, 1997, 90 (03) :537-548
[9]   Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain [J].
DiFiglia, M ;
Sapp, E ;
Chase, KO ;
Davies, SW ;
Bates, GP ;
Vonsattel, JP ;
Aronin, N .
SCIENCE, 1997, 277 (5334) :1990-1993
[10]   Frontotemporal dementia and parkinsonism linked to chromosome 17: A consensus conference [J].
Foster, NL ;
Wilhelmsen, K ;
Sima, AAF ;
Jones, MZ ;
DAmato, CJ ;
Gilman, S ;
Spillantini, MG ;
Lynch, T ;
Mayeux, RP ;
Gaskell, PC ;
Hulette, CM ;
PericakVance, MA ;
WelshBohmer, KA ;
Dickson, DW ;
Heutink, P ;
Kros, J ;
vanSwieten, JC ;
Arwert, F ;
Ghetti, MB ;
Murrell, J ;
Lannfelt, L ;
Hutton, M ;
Jones, M ;
Phelps, CH ;
Snyder, DS ;
Oliver, E ;
Ball, MJ ;
Cummings, JL ;
Miller, BL ;
Katzman, R ;
Reed, L ;
Schelper, RL ;
Landska, DJ ;
Brun, A ;
Fink, JK ;
Kuhl, DE ;
Knopman, DS ;
Wszolek, Z ;
Miller, CA ;
Bird, TD ;
Lendon, C ;
Elechi, C .
ANNALS OF NEUROLOGY, 1997, 41 (06) :706-715