Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease. Le Ber, I., Camuzat, A., Berger, E., Hannequin, D., Laquerrière, A., Golfier, V., Seilhean, D., Viennet, G., Couratier, P., Verpillat, P., Heath, S., Camu, W., Martinaud, O., Lacomblez, L., Vercelletto, M., Salachas, F., Sellal, F., Didic, M., Thomas-Anterion, C., Puel, M., Michel, B., Besse, C., Duyckaerts, C., Meininger, V., Campion, D., Dubois, B., Brice, A., & French Research Network on FTD/FTD-MND Neurology, 72(19):1669–1676, May, 2009.
doi  abstract   bibtex   
BACKGROUND: Frontotemporal dementia associated with motor neuron disease (FTD-MND) is a rare neurodegenerative disorder that may be inherited by autosomal dominant trait. No major gene has been identified but a locus was mapped on chromosome 9 (9p21.3-p13.3). METHODS: Ten French families with FTD-MND were tested for linkage to the 9p21.3-p13.3 region. We report extensive mutation screening in 9p-linked families and their clinical characteristics. RESULTS: We identified six new families with evidence for linkage to the chromosome 9p. Cumulative multipoint LOD score values were positive between markers D9S1121 and D9S301, reaching a peak of 8.0 at marker D9S248. Haplotype reconstruction defined the telomeric boundary at marker AFM218xg11, slightly narrowing the candidate interval. We found no disease-causing mutations by sequencing 29 candidate genes including IFT74 and no copy number variations in the 9p region. The mean age at onset was 57.9 +/- 10.3 years (range, 41-84), with wide heterogeneity within and among families suggesting age-dependant penetrance. The patients presented isolated FTD (32%), isolated MND (29%), or both disorders (39%). The general characteristics of the disease did not differ, except for an older age at onset and shorter disease duration in the 9p-linked compared to nonlinked families. TDP-43-positive neuronal cytoplasmic inclusions were found in cortex and spinal cord in 3 patients. CONCLUSIONS: This study increases the number of 9p-linked families now reported and shows that this locus may have a major effect on frontotemporal dementia (FTD) and motor neuron disease (MND). Considering our results, the causative gene might be implicated in at least 60% of the families with FTD-MND disorder.
@article{le_ber_chromosome_2009,
	title = {Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease},
	volume = {72},
	issn = {1526-632X},
	doi = {10.1212/WNL.0b013e3181a55f1c},
	abstract = {BACKGROUND: Frontotemporal dementia associated with motor neuron disease (FTD-MND) is a rare neurodegenerative disorder that may be inherited by autosomal dominant trait. No major gene has been identified but a locus was mapped on chromosome 9 (9p21.3-p13.3).
METHODS: Ten French families with FTD-MND were tested for linkage to the 9p21.3-p13.3 region. We report extensive mutation screening in 9p-linked families and their clinical characteristics.
RESULTS: We identified six new families with evidence for linkage to the chromosome 9p. Cumulative multipoint LOD score values were positive between markers D9S1121 and D9S301, reaching a peak of 8.0 at marker D9S248. Haplotype reconstruction defined the telomeric boundary at marker AFM218xg11, slightly narrowing the candidate interval. We found no disease-causing mutations by sequencing 29 candidate genes including IFT74 and no copy number variations in the 9p region. The mean age at onset was 57.9 +/- 10.3 years (range, 41-84), with wide heterogeneity within and among families suggesting age-dependant penetrance. The patients presented isolated FTD (32\%), isolated MND (29\%), or both disorders (39\%). The general characteristics of the disease did not differ, except for an older age at onset and shorter disease duration in the 9p-linked compared to nonlinked families. TDP-43-positive neuronal cytoplasmic inclusions were found in cortex and spinal cord in 3 patients.
CONCLUSIONS: This study increases the number of 9p-linked families now reported and shows that this locus may have a major effect on frontotemporal dementia (FTD) and motor neuron disease (MND). Considering our results, the causative gene might be implicated in at least 60\% of the families with FTD-MND disorder.},
	language = {eng},
	number = {19},
	journal = {Neurology},
	author = {Le Ber, I. and Camuzat, A. and Berger, E. and Hannequin, D. and Laquerrière, A. and Golfier, V. and Seilhean, D. and Viennet, G. and Couratier, P. and Verpillat, P. and Heath, S. and Camu, W. and Martinaud, O. and Lacomblez, L. and Vercelletto, M. and Salachas, F. and Sellal, F. and Didic, M. and Thomas-Anterion, C. and Puel, M. and Michel, B.-F. and Besse, C. and Duyckaerts, C. and Meininger, V. and Campion, D. and Dubois, B. and Brice, A. and {French Research Network on FTD/FTD-MND}},
	month = may,
	year = {2009},
	pmid = {19433740},
	keywords = {Aged, Humans, Dementia, Age of Onset, Female, Male, Middle Aged, Adult, Aged, 80 and over, Genetic Predisposition to Disease, Genetic Testing, Mutation, Pedigree, Motor Neuron Disease, Genotype, Chromosomes, Human, Pair 9, Young Adult, DNA Mutational Analysis, Genetic Markers, Chromosome Mapping, Genetic Linkage, Penetrance},
	pages = {1669--1676}
}
Downloads: 0
About
Documentation
Keywords
Search
Users
Terms and Conditions of Use
Privacy Policy
Sitemap
© BibBase.org 2021