A systematic review of the intergenerational aspects and the diverse genetic profiles of Huntington's disease

被引：10
作者：
Agostinho, L. A. [1 ,2 ]
dos Santos, S. R. [1 ]
Alvarenga, R. M. P. [2 ]
Paiva, C. L. A. [1 ,2 ]
机构：
[1] Inst Biomed, Dept Genet & Biol Mol, Rio De Janeiro, RJ, Brazil
[2] Univ Fed Estado Rio de Janeiro, Programa Posgrad Neurol, Rio De Janeiro, RJ, Brazil
来源：
GENETICS AND MOLECULAR RESEARCH | 2013年 / 12卷 / 02期
关键词：
Huntington's disease; CAG repeats; Intergenerational aspects; DNA HAPLOTYPE ANALYSIS; AGE-OF-ONSET; CAG EXPANSION; VENEZUELAN KINDREDS; CCG REPEATS; POPULATION; FAMILIES; MECHANISMS; ORIGINS;
D O I：
10.4238/2013.June.13.6
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
Huntington's disease (HD) is a rare progressive and fatal neurogenetic degenerative disease, characterized by movement and personality disorders and by progressive dementia. Its prevalence varies by ethnic origin and different genetic profiles predisposing individuals to HD in each population. The prevalence of HD is 5-10 per 100,000 individuals in Caucasian populations of North America and Western Europe. It is an autosomal dominant disease associated with the expansion of CAG-type repetitive DNA sequences in the HTT gene. This gene, located on the short arm of chromosome 4, encodes the protein huntingtin. In this study, we reviewed 17 articles about HD that report data from 2400 affected individuals from various countries around the world, including Venezuela, China, Croatia, Turkey, Germany, Italy, Brazil, Spain, Taiwan, India, the Netherlands, Russia, and the USA, with a focus on genetic profiles and intergenerational expansions or contractions of expanded alleles responsible for causing HD. We discuss the genetic characteristics of HD in different populations and any atypical cases reported in these studies.
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收藏
页码：1974 / 1981
页数：8
相关论文
共 26 条
[1]  
Agostinho LD, 2012, J HUM GENET, V57, P796, DOI 10.1038/jhg.2012.120
[2]   DNA testing for Huntington disease in the Turkish population [J].
Akbas, F ;
Erginel-Unaltuna, N .
EUROPEAN NEUROLOGY, 2003, 50 (01) :20-24
[3]   Replication of twelve association studies for Huntington's disease residual age of onset in large Venezuelan kindreds [J].
Andresen, J. M. ;
Gayan, J. ;
Cherny, S. S. ;
Brocklebank, D. ;
Alkorta-Aranburu, G. ;
Addis, E. A. ;
Cardon, L. R. ;
Housman, D. E. ;
Wexler, N. S. .
JOURNAL OF MEDICAL GENETICS, 2007, 44 (01) :44-50
[4]   THE RELATIONSHIP BETWEEN TRINUCLEOTIDE (CAG) REPEAT LENGTH AND CLINICAL-FEATURES OF HUNTINGTONS-DISEASE [J].
ANDREW, SE ;
GOLDBERG, YP ;
KREMER, B ;
TELENIUS, H ;
THEILMANN, J ;
ADAM, S ;
STARR, E ;
SQUITIERI, F ;
LIN, BY ;
KALCHMAN, MA ;
GRAHAM, RK ;
HAYDEN, MR .
NATURE GENETICS, 1993, 4 (04) :398-403
[5]   Huntington's disease as caused by 34 CAG repeats [J].
Andrich, Juergen ;
Arning, Larissa ;
Wieczorek, Stefan ;
Kraus, Peter H. ;
Gold, Ralf ;
Saft, Carsten .
MOVEMENT DISORDERS, 2008, 23 (06) :879-881
[6]   HUNTINGTONS CHOREA IN MICHIGAN .3. CLINICAL OBSERVATIONS [J].
CHANDLER, JH ;
REED, TE ;
DEJONG, RN .
NEUROLOGY, 1960, 10 (02) :148-153
[7]   Ancient origin of the CAG expansion causing Huntington disease in a Spanish population [J].
García-Planells, J ;
Burguera, JA ;
Solís, P ;
Millán, JM ;
Ginestar, D ;
Palau, F ;
Espinós, C .
HUMAN MUTATION, 2005, 25 (05) :453-459
[8]   Mechanisms of neurodegeneration in Huntington's disease [J].
Gil, Joana M. ;
Rego, Ana Cristina .
EUROPEAN JOURNAL OF NEUROSCIENCE, 2008, 27 (11) :2803-2820
[9]   Genetic Background of Huntington Disease in Croatia: Molecular Analysis of CAG, CCG, and Δ2642 (E2642del) Polymorphisms [J].
Hecimovic, Silva ;
Klepac, Natasa ;
Vlasic, Jelena ;
Vojta, Aleksandar ;
Janko, Dolores ;
Skarpa-Prpic, Ingrid ;
Canki-Klain, Nina ;
Markovic, Dubravko ;
Bozikov, Jadranka ;
Relja, Maja ;
Pavelic, Kresimir .
HUMAN MUTATION, 2002, 20 (03) :233
[10]   The molecular biology of Huntington's disease [J].
Ho, LW ;
Carmichael, J ;
Swartz, J ;
Wyttenbach, A ;
Rankin, J ;
Rubinsztein, DC .
PSYCHOLOGICAL MEDICINE, 2001, 31 (01) :3-14
123