A large Calabrian kindred segregating frontotemporal dementia

被引:14
作者
Curcio, SAM
Kawarai, T
Paterson, AD
Maletta, RG
Puccio, G
Perri, M
Di Natale, M
Palermo, S
Foncin, JF
Hyslop, PHS
Bruni, AC
机构
[1] Ctr Reg Neurogenet, I-88046 Lamezia Terme, CZ, Italy
[2] Univ Toronto, Ctr Res Neurodegenerat Dis, Toronto, ON M5S 1A8, Canada
[3] Hosp Sick Children, Program Genet & Genomic Biol, Toronto, ON M5G 1X8, Canada
[4] Azienda Osped Pugliese, Dipartimento Med Nucl, I-88100 Catanzaro, Italy
关键词
frontotemporal dementia; genealogical methods; MAPt gene; linkage study;
D O I
10.1007/s00415-002-0759-4
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Frontotemporal dementia (FTD) displays significant neuropathological and genetic heterogeneity among and within affected families. An early diagnosis is often difficult because cognitive symptoms are manifest only at a late stage of the disease. We have been studying a large pedigree segregating frontotemporal dementia (FTD) to which belong 34 identified affected persons, 11 of whom were personally examined. The kindred has been genealogically reconstructed; all FTD patients have been linked to the same ancestors who lived in the early 18(th) century (11 generations before the present one). Autosomal dominant transmission was evident. Clinical features were uniform within the kindred and met the Lund-Manchester criteria. Personality changes with absence of insight, lack of empathy and of social awareness manifested up to 5 years before medical advice was sought, Loss of fluency was the earliest neuropsychological sign, in the absence of memory, orientation and praxis deficits, which evolved late, together with hyperorality. Akinesia was observed early, rigidity appeared late, tremor was absent. Two patients showed myoclonus late in their evolution. No ALS signs were observed in this kindred. Mutations of the MAPt gene, coding for the Tau protein, were not detected in affected family members. Linkage studies excluded chromosomes 3 and 9 and gave indeterminate results that were model dependent for chromosome 17.
引用
收藏
页码:911 / 922
页数:12
相关论文
共 51 条
[1]   Prevalence and incidence of clinically diagnosed memory impairments in a geographically defined general population in Sweden -: The Pitea Dementia Project [J].
Andreasen, N ;
Blennow, K ;
Sjodin, C ;
Winblad, B ;
Svärdsudd, K .
NEUROEPIDEMIOLOGY, 1999, 18 (03) :144-155
[2]   WORD LENGTH AND STRUCTURE OF SHORT-TERM-MEMORY [J].
BADDELEY, AD ;
THOMSON, N ;
BUCHANAN, M .
JOURNAL OF VERBAL LEARNING AND VERBAL BEHAVIOR, 1975, 14 (06) :575-589
[3]   WORD FLUENCY AND BRAIN DAMAGE [J].
BORKOWSKI, JG ;
BENTON, AL ;
SPREEN, O .
NEUROPSYCHOLOGIA, 1967, 5 (02) :135-+
[4]   Which neuropsychiatric and behavioural features distinguish frontal and temporal variants of frontotemporal dementia from Alzheimer's disease? [J].
Bozeat, S ;
Gregory, CA ;
Ralph, MAL ;
Hodges, JR .
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2000, 69 (02) :178-186
[5]   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
[6]  
BRUN A, 1994, J NEUROL NEUROSUR PS, V57, P416
[7]  
Bruni A C, 1992, J Geriatr Psychiatry Neurol, V5, P126
[8]  
Bruni AC, 1998, FUNCT NEUROL, V13, P257
[9]   Inheritance of frontotemporal dementia [J].
Chow, TW ;
Miller, BL ;
Hayashi, VN ;
Geschwind, DH .
ARCHIVES OF NEUROLOGY, 1999, 56 (07) :817-822
[10]  
Clark W, 1998, J AM ETHNIC HIST, V17, P95