Skip Navigation

This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (112)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Cancel, G.
Right arrow Articles by Brice, A.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Cancel, G.
Right arrow Articles by Brice, A.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Human Molecular Genetics, Vol 6, 709-715, Copyright © 1997 by Oxford University Press

ARTICLES

Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families

G Cancel, A Durr, O Didierjean, G Imbert, K Burk, A Lezin, S Belal, A Benomar, M Abada-Bendib, C Vial, J Guimaraes, H Chneiweiss, G Stevanin, G Yvert, N Abbas, F Saudou, AS Lebre, M Yahyaoui, F Hentati, JC Vernant, T Klockgether, JL Mandel, Y Agid and A Brice
INSERM U289, Paris, France.

Spinocerebellar ataxia 2 (SCA2) is caused by the expansion of an unstable CAG repeat encoding a polyglutamine tract. One hundred and eighty four index patients with autosomal dominant cerebellar ataxia type I were screened for this mutation. We found expansion in 109 patients from 30 families of different geographical origins (15%) and in two isolated cases with no known family histories (2%). The SCA2 chromosomes contained from 34 to 57 repeats and consisted of a pure stretch of CAG, whereas all tested normal chromosomes (14-31 repeats), except one with 14 repeats, were interrupted by 1-3 repeats of CAA. As in other diseases caused by unstable mutations, a strong negative correlation was observed between the age at onset and the size of the CAG repeat (r = -0.81). The frequency of several clinical signs such as myoclonus, dystonia and myokymia increased with the number of CAG repeats whereas the frequency of others was related to disease duration. The CAG repeat was highly unstable during transmission with variations ranging from -8 to +12, and a mean increase of +2.2, but there was no significant difference according to the parental sex. This instability was confirmed by the high degree of gonadal mosaicism observed in sperm DNA of one patient.
Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Hum Mol GenetHome page
S. Lesage and A. Brice
Parkinson's disease: from monogenic forms to genetic susceptibility factors
Hum. Mol. Genet., April 15, 2009; 18(R1): R48 - R59.
[Abstract] [Full Text] [PDF]

Home page
 J Trop PediatrHome page
L. Mutesa, G. Pierquin, K. Segers, J. F. Vanbellinghen, L. Gahimbare, and V. Bours
Spinocerebellar Ataxia Type 2 (SCA2): Clinical Features and Genetic Analysis
J Trop Pediatr, October 1, 2008; 54(5): 350 - 352.
[Abstract] [Full Text] [PDF]

Home page
 J Child NeurolHome page
M. B. Ramocki, L. Chapieski, R. O. McDonald, F. Fernandez, and A. D. Malphrus
Spinocerebellar Ataxia Type 2 Presenting With Cognitive Regression in Childhood
J Child Neurol, September 1, 2008; 23(9): 999 - 1001.
[Abstract] [PDF]

Home page
 NeurologyHome page
P. Charles, A. Camuzat, N. Benammar, F. Sellal, A. Destee, A-M Bonnet, S. Lesage, I. Le Ber, G. Stevanin, A. Durr, et al.
Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism?
Neurology, November 20, 2007; 69(21): 1970 - 1975.
[Abstract] [Full Text] [PDF]

Home page
 Arch NeurolHome page
J.-M. Kim, S. Hong, G. P. Kim, Y. J. Choi, Y. K. Kim, S. S. Park, S. E. Kim, and B. S. Jeon
Importance of Low-Range CAG Expansion and CAA Interruption in SCA2 Parkinsonism
Arch Neurol, October 1, 2007; 64(10): 1510 - 1518.
[Abstract] [Full Text] [PDF]

Home page
 J Child NeurolHome page
E. Dirik, U. Yis, N. Basak, E. Soydan, O. Hudaoglu, and F. Ozgonul
Spinocerebellar Ataxia Type 2 in a Turkish Family
J Child Neurol, July 1, 2007; 22(7): 891 - 894.
[Abstract] [PDF]

Home page
 J. Neurol. Neurosurg. PsychiatryHome page
S M Boesch, J Muller, G K Wenning, and W Poewe
Cervical dystonia in spinocerebellar ataxia type 2: clinical and polymyographic findings
J. Neurol. Neurosurg. Psychiatry, May 1, 2007; 78(5): 520 - 522.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
I. Tuin, U. Voss, J. -S. Kang, K. Kessler, U. Rub, D. Nolte, H. Lochmuller, S. Tinschert, D. Claus, K. Krakow, et al.
Stages of sleep pathology in spinocerebellar ataxia type 2 (SCA2)
Neurology, December 12, 2006; 67(11): 1966 - 1972.
[Abstract] [Full Text] [PDF]

Home page
 BrainHome page
K. Lasek, R. Lencer, C. Gaser, J. Hagenah, U. Walter, A. Wolters, N. Kock, S. Steinlechner, M. Nagel, C. Zuhlke, et al.
Morphological basis for the spectrum of clinical deficits in spinocerebellar ataxia 17 (SCA17)
Brain, September 1, 2006; 129(9): 2341 - 2352.
[Abstract] [Full Text] [PDF]

Home page
 J. Mol. Diagn.Home page
C. Cagnoli, G. Stevanin, C. Michielotto, G. Gerbino Promis, A. Brussino, P. Pappi, A. Durr, E. Dragone, M. Viemont, C. Gellera, et al.
Large Pathogenic Expansions in the SCA2 and SCA7 Genes Can Be Detected by Fluorescent Repeat-Primed Polymerase Chain Reaction Assay
J. Mol. Diagn., February 1, 2006; 8(1): 128 - 132.
[Abstract] [Full Text] [PDF]

Home page
 BrainHome page
S.-M. Pulst, N. Santos, D. Wang, H. Yang, D. Huynh, L. Velazquez, and K. P. Figueroa
Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset
Brain, October 1, 2005; 128(10): 2297 - 2303.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
A. Toulouse, F. Au-Yeung, C. Gaspar, J. Roussel, P. Dion, and G. A. Rouleau
Ribosomal frameshifting on MJD-1 transcripts with long CAG tracts
Hum. Mol. Genet., September 15, 2005; 14(18): 2649 - 2660.
[Abstract] [Full Text] [PDF]

Home page
 Arch NeurolHome page
A. Brusco, C. Gellera, C. Cagnoli, A. Saluto, A. Castucci, C. Michielotto, V. Fetoni, C. Mariotti, N. Migone, S. Di Donato, et al.
Molecular Genetics of Hereditary Spinocerebellar Ataxia: Mutation Analysis of Spinocerebellar Ataxia Genes and CAG/CTG Repeat Expansion Detection in 225 Italian Families
Arch Neurol, May 1, 2004; 61(5): 727 - 733.
[Abstract] [Full Text] [PDF]

Home page
 Arch NeurolHome page
C.-S. Lu, Y.-H. Wu Chou, P.-C. Kuo, H.-C. Chang, and Y.-H. Weng
The Parkinsonian Phenotype of Spinocerebellar Ataxia Type 2
Arch Neurol, January 1, 2004; 61(1): 35 - 38.
[Abstract] [Full Text] [PDF]

Home page
 BrainHome page
U. Rub, D. Del Turco, K. Del Tredici, R. A. I. de Vos, E. R. Brunt, G. Reifenberger, C. Seifried, C. Schultz, G. Auburger, and H. Braak
Thalamic involvement in a spinocerebellar ataxia type 2 (SCA2) and a spinocerebellar ataxia type 3 (SCA3) patient, and its clinical relevance
Brain, October 1, 2003; 126(10): 2257 - 2272.
[Abstract] [Full Text] [PDF]

Home page
 Arch NeurolHome page
W. Y. Lee, D. K. Jin, M. R. Oh, J. E. Lee, S. M. Song, E. A. Lee, G.-m. Kim, J. S. Chung, and K. H. Lee
Frequency Analysis and Clinical Characterization of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 in Korean Patients
Arch Neurol, June 1, 2003; 60(6): 858 - 863.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
N K Ragge, C Hartley, A M Dearlove, J Walker, I Russell-Eggitt, and C M Harris
Familial vestibulocerebellar disorder maps to chromosome 13q31-q33: a new nystagmus locus
J. Med. Genet., January 1, 2003; 40(1): 37 - 41.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
C. Goizet, G. Lesca, and A. Durr
Presymptomatic testing in Huntington's disease and autosomal dominant cerebellar ataxias
Neurology, November 12, 2002; 59(9): 1330 - 1336.
[Abstract] [Full Text] [PDF]

Home page
 Arch NeurolHome page
I. Silveira, C. Miranda, L. Guimaraes, M.-C. Moreira, I. Alonso, P. Mendonca, A. Ferro, J. Pinto-Basto, J. Coelho, F. Ferreirinha, et al.
Trinucleotide Repeats in 202 Families With Ataxia: A Small Expanded (CAG)n Allele at the SCA17 Locus
Arch Neurol, April 1, 2002; 59(4): 623 - 629.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
B.P.C. van de Warrenburg, R.J. Sinke, C.C. Verschuuren-Bemelmans, H. Scheffer, E.R. Brunt, P.F. Ippel, J.A. Maat-Kievit, D. Dooijes, N.C. Notermans, D. Lindhout, et al.
Spinocerebellar ataxias in the Netherlands: Prevalence and age at onset variance analysis
Neurology, March 12, 2002; 58(5): 702 - 708.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
S. Choudhry, M. Mukerji, A. K. Srivastava, S. Jain, and S. K. Brahmachari
CAG repeat instability at SCA2 locus: anchoring CAA interruptions and linked single nucleotide polymorphisms
Hum. Mol. Genet., October 1, 2001; 10(21): 2437 - 2446.
[Abstract] [Full Text] [PDF]

Home page
 Arch NeurolHome page
Y.-X. Zhou, W.-H. Qiao, W.-H. Gu, H. Xie, B.-S. Tang, L.-S. Zhou, B.-X. Yang, Y. Takiyama, S. Tsuji, H.-Y. He, et al.
Spinocerebellar Ataxia Type 1 in China: Molecular Analysis and Genotype-Phenotype Correlation in 5 Families
Arch Neurol, May 1, 2001; 58(5): 789 - 794.
[Abstract] [Full Text] [PDF]

Home page
 Arch NeurolHome page
W. Gu, Y. Wang, X. Liu, B. Zhou, Y. Zhou, and G. Wang
Molecular and Clinical Study of Spinocerebellar Ataxia Type 7 in Chinese Kindreds
Arch Neurol, October 1, 2000; 57(10): 1513 - 1518.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
K. Gwinn-Hardy, J. Y. Chen, H.-C. Liu, T. Y. Liu, M. Boss, W. Seltzer, A. Adam, A. Singleton, W. Koroshetz, C. Waters, et al.
Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese
Neurology, September 26, 2000; 55(6): 800 - 805.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
M. Fernandez, M. E. McClain, R. A. Martinez, K. Snow, H. Lipe, J. Ravits, T. D. Bird, and A. R. La Spada
Late-onset SCA2: 33 CAG repeats are sufficient to cause disease
Neurology, August 22, 2000; 55(4): 569 - 572.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
S. Hayes, G. Turecki, K. Brisebois, I. Lopes-Cendes, C. Gaspar, O. Riess, L. P.W. Ranum, S.-M. Pulst, and G. A. Rouleau
CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2)
Hum. Mol. Genet., July 22, 2000; 9(12): 1753 - 1758.
[Abstract] [Full Text] [PDF]

Home page
 Arch NeurolHome page
B. Tang, C. Liu, L. Shen, H. Dai, Q. Pan, L. Jing, S. Ouyang, and J. Xia
Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG Trinucleotide Repeat Expansion in Patients With Hereditary Spinocerebellar Ataxia From Chinese Kindreds
Arch Neurol, April 1, 2000; 57(4): 540 - 544.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
S. Costanzi-Porrini, D. Tessarolo, C. Abbruzzese, M. Liguori, T. Ashizawa, and M. Giacanelli
An interrupted 34-CAG repeat SCA-2 allele in patients with sporadic spinocerebellar ataxia
Neurology, January 25, 2000; 54(2): 491 - 491.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
O. Didierjean, G. Cancel, G. Stevanin, A. Dürr, K. Bürk, A. Benomar, A. Lezin, S. Belal, M. Abada-Bendid, T. Klockgether, et al.
Linkage disequilibrium at the SCA2 locus
J. Med. Genet., May 1, 1999; 36(5): 415 - 417.
[Abstract] [Full Text]

Home page
 BrainHome page
K. Burk, C. Globas, S. Bosch, S. Graber, M. Abele, A. Brice, J. Dichgans, I. Daum, and T. Klockgether
Cognitive deficits in spinocerebellar ataxia 2
Brain, April 1, 1999; 122(4): 769 - 777.
[Abstract] [Full Text] [PDF]

Home page
 Arch NeurolHome page
E. Storey, S. M. Forrest, J. H. Shaw, P. Mitchell, and R. J. M. Gardner
Spinocerebellar Ataxia Type 2: Clinical Features of a Pedigree Displaying Prominent Frontal-Executive Dysfunction
Arch Neurol, January 1, 1999; 56(1): 43 - 50.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.