Neurology
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

This Article
Right arrow Figures Only
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Correspondence:
Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when Correspondence are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Stevanin, G.
Right arrow Articles by Brice, A.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Stevanin, G.
Right arrow Articles by Brice, A.
NEUROLOGY 1997;49:1243-1246
© 1997 American Academy of Neurology

Clinical and molecular features of spinocerebellar ataxia type 6

G. Stevanin, MS, A. Dürr, MD, G. David, MS, O. Didierjean, BS, G. Cancel, MS, S. Rivaud, PhD, A. Tourbah, MD, PhD, J.-M. Warter, MD, PhD, Y. Agid, MD, PhD and A. Brice, MD

From INSERM U289 and Fédération de Neurologie, Hôpital de la Salpêtrière (G. Stevanin, G. David, O. Didierjean, and G. Cancel, and Drs. Dürr, Rivaud, Agid, and Brice), Paris, France; the Service de Neuroradiologie, Hôpital des 15/20 (Dr. Tourbah), Paris, France; and the Service des maladies du système nerveus et du muscle, Hôpital Civil (Dr. Warter), Strasbourg, France.

Address correspondence and reprint requests to Dr. A. Brice, INSERM U289, Hôpital de la Salpêtrière, 47 Bd de l'Hôpital, 75651 Paris Cédex 13, France.

The mutation involved in spinocerebellar ataxia type 6 (SCA6) is a small CAG expansion in the alpha-1A subunit of the voltage-dependent calcium channel gene. We looked for this mutation in 91 families with autosomal-dominant cerebellar ataxias and found that SCA6 is a minor locus in our series (2%) and is rare in France (1%). Furthermore, we did not detect the SCA6 mutation on 146 sporadic cases with isolated cerebellar ataxia or olivopontocerebellar atrophy. The normal and expanded alleles ranged from 4 to 15 and 22 to 28 CAG repeats, respectively, and age at onset was correlated to CAG repeat length (r = -0.87). In contrast with other SCA, the expanded allele was stable during transmission. Clinically, SCA6 patients (n = 12) presented with moderate to severe cerebellar ataxia with a lower frequency of associated signs compared with other SCA and a mean age at onset of 45± 14 years (range, 24 to 67). MRI showed extensive cerebellar atrophy but not of the brainstem or cerebral cortex.

Supported by the VERUM Foundation, the Association Française contre les Myopathies (to G.C.), and the Association pour le Développement de la Recherche sur les Maladies Génétiques Neurologiques et Psychiatriques. G.D. held fellowships from the Association Française Retinitis Pigmentosa/Retina France and the Association des Aveugles et Handicapés Visuels de France.

Received June 2, 1997. Accepted in final form August 6, 1997.




This article has been cited by other articles:


Home page
 Arch NeurolHome page
S. Martins, F. Calafell, C. Gaspar, V. C. N. Wong, I. Silveira, G. A. Nicholson, E. R. Brunt, L. Tranebjaerg, G. Stevanin, M. Hsieh, et al.
Asian Origin for the Worldwide-Spread Mutational Event in Machado-Joseph Disease
Arch Neurol, October 1, 2007; 64(10): 1502 - 1508.
[Abstract] [Full Text] [PDF]

Home page
 Br. J. Radiol.Home page
D Butteriss, P Chinnery, and D Birchall
Radiological characterization of spinocerebellar ataxia type 6
Br. J. Radiol., August 1, 2005; 78(932): 694 - 696.
[Abstract] [Full Text] [PDF]

Home page
 Arch NeurolHome page
K. Honjo, T. Ohshita, H. Kawakami, H. Naka, Y. Imon, H. Maruyama, Y. Mimori, and M. Matsumoto
Quantitative Assessment of Cerebral Blood Flow in Genetically Confirmed Spinocerebellar Ataxia Type 6
Arch Neurol, June 1, 2004; 61(6): 933 - 937.
[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
 Arch NeurolHome page
R. J. Sinke, E. F. Ippel, C. M. Diepstraten, F. A. Beemer, J. H. J. Wokke, B. J. van Hilten, N. V. A. M. Knoers, H. K. P. van Amstel, and H. P. H. Kremer
Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 6: A Study of 24 Dutch Families
Arch Neurol, November 1, 2001; 58(11): 1839 - 1844.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
K. Komeichi, H. Sasaki, I. Yabe, I. Yamashita, S. Kikuchi, and K. Tashiro
Twenty CAG repeats are sufficient to cause the SCA6 phenotype
J. Med. Genet., November 1, 2001; 38 (11): e38 - e38.
[Full Text] [PDF]

Home page
 Arch NeurolHome page
B.-w. Soong, Y.-c. Lu, K.-b. Choo, and H.-y. Lee
Frequency Analysis of Autosomal Dominant Cerebellar Ataxias in Taiwanese Patients and Clinical and Molecular Characterization of Spinocerebellar Ataxia Type 6
Arch Neurol, July 1, 2001; 58(7): 1105 - 1109.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
I Yabe, H Sasaki, I Yamashita, K Tashiro, A Takei, Y Suzuki, H Kida, Y Takiyama, M Nishizawa, Y Hokezu, et al.
Predisposing chromosome for spinocerebellar ataxia type 6 (SCA6) in Japanese
J. Med. Genet., May 1, 2001; 38(5): 328 - 333.
[Full Text]

Home page
 Arch NeurolHome page
B.-w. Soong, R.-s. Liu, L.-c. Wu, Y.-c. Lu, and H.-y. Lee
Metabolic Characterization of Spinocerebellar Ataxia Type 6
Arch Neurol, February 1, 2001; 58(2): 300 - 304.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
G. Stevanin, A. Herman, A. Brice, and A. Durr
Clinical and MRI findings in spinocerebellar ataxia type 5
Neurology, October 1, 1999; 53(6): 1355 - 1355.
[Abstract] [Full Text] [PDF]

Home page
 J. Neurol. Neurosurg. PsychiatryHome page
K Ishikawa, M Watanabe, K Yoshizawa, T Fujita, H Iwamoto, T Yoshizawa, K Harada, K Nakamagoe, Y Komatsuzaki, A Satoh, et al.
Clinical, neuropathological, and molecular study in two families with spinocerebellar ataxia type 6 (SCA6)
J. Neurol. Neurosurg. Psychiatry, July 1, 1999; 67(1): 86 - 89.
[Abstract] [Full Text]

Home page
 NeurologyHome page
C. Denier, A. Ducros, K. Vahedi, A. Joutel, P. Thierry, A. Ritz, G. Castelnovo, T. Deonna, P. Gerard, J. L. Devoize, et al.
High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2
Neurology, June 1, 1999; 52(9): 1816 - 1816.
[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
 NeurologyHome page
M. Dichgans, L. Schols, J. Herzog, G. Stevanin, H. Weirich-Schwaiger, G. Rouleau, K. Burk, T. Klockgether, C. Zuhlke, F. Laccone, et al.
Spinocerebellar ataxia type 6: Evidence for a strong founder effect among German families
Neurology, March 1, 1999; 52(4): 849 - 849.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
J. García-Planells, A. Cuesta, J. J Vílchez, F. Martínez, F. Prieto, and F. Palau
Genetics of the SCA6 gene in a large family segregating an autosomal dominant "pure" cerebellar ataxia
J. Med. Genet., February 1, 1999; 36(2): 148 - 151.
[Abstract] [Full Text]

Home page
 J. Biol. Chem.Home page
M. W. McEnery, T. D. Copeland, and C. L. Vance
Altered Expression and Assembly of N-type Calcium Channel alpha 1B and beta  Subunits in Epileptic lethargic (lh/lh) Mouse
J. Biol. Chem., August 21, 1998; 273(34): 21435 - 21438.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 1997 by AAN Enterprises, Inc.