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 Tranchant, C.
Right arrow Articles by Warter, J. M.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Tranchant, C.
Right arrow Articles by Warter, J. M.
Related Collections
Right arrow Gait disorders/ataxia
Right arrow All Neuro-ophthalmology
Right arrow Ocular motility
Right arrow Spinocerebellar ataxia
Right arrow All Genetics

Neurology 2003;60:868-870
© 2003 American Academy of Neurology
Brief Communications

Phenotypic variability of aprataxin gene mutations

C. Tranchant, MD, M. Fleury, MD, M. C. Moreira, PhD, M. Koenig, MD PhD and J. M. Warter, MD

From the Clinique neurologique (Drs. Tranchant, Fleury, and Warter), Hôpitaux universitaires, and Institut de génétique et de biologie moléculaire et cellulaire (Drs. Koenig and Moreira) M. C., CNRS, INSERM, Strasbourg. France.

Address correspondence and reprint requests to C. Tranchant, Service de neurologie, Hôpitaux universitaires, 1 place de l’hôpital, 67091 Strasbourg Cedex, France; e-mail: Christine.Tranchant{at}chru-strasbourg.fr

The clinical and genetic features of three non-Portuguese and non-Japanese patients with aprataxin gene mutations are reported. Patient 1 came from Italy and presented with typical ataxia with ocular motor apraxia (OMA). She was homozygous for the W279X nonsense mutation, which is associated with the Portuguese founding haplotype. Patients 2 and 3 were French siblings and did not present with either OMA or hypoalbuminemia. They were compound heterozygous for the nonsense W279X mutation and a missense K197Q mutation.




This article has been cited by other articles:


Home page
 Hum Mol GenetHome page
J. L. Harris, B. Jakob, G. Taucher-Scholz, G. L. Dianov, O. J. Becherel, and M. F. Lavin
Aprataxin, poly-ADP ribose polymerase 1 (PARP-1) and apurinic endonuclease 1 (APE1) function together to protect the genome against oxidative damage
Hum. Mol. Genet., November 1, 2009; 18(21): 4102 - 4117.
[Abstract] [Full Text] [PDF]

Home page
 BrainHome page
M. Anheim, B. Monga, M. Fleury, P. Charles, C. Barbot, M. Salih, J. P. Delaunoy, M. Fritsch, L. Arning, M. Synofzik, et al.
Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients
Brain, October 1, 2009; 132(10): 2688 - 2698.
[Abstract] [Full Text] [PDF]

Home page
 J Child NeurolHome page
S. D'Arrigo, D. Riva, S. Bulgheroni, L. Chiapparini, B. Castellotti, C. Gellera, and C. Pantaleoni
Ataxia With Oculomotor Apraxia Type 1 (AOA1): Clinical and Neuropsychological Features in 2 New Patients and Differential Diagnosis
J Child Neurol, August 1, 2008; 23(8): 895 - 900.
[Abstract] [PDF]

Home page
 Hum Mol GenetHome page
O. J. Becherel, N. Gueven, G. W. Birrell, V. Schreiber, A. Suraweera, B. Jakob, G. Taucher-Scholz, and M. F. Lavin
Nucleolar localization of aprataxin is dependent on interaction with nucleolin and on active ribosomal DNA transcription
Hum. Mol. Genet., July 15, 2006; 15(14): 2239 - 2249.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
A. W. Kijas, J. L. Harris, J. M. Harris, and M. F. Lavin
Aprataxin Forms a Discrete Branch in the HIT (Histidine Triad) Superfamily of Proteins with Both DNA/RNA Binding and Nucleotide Hydrolase Activities
J. Biol. Chem., May 19, 2006; 281(20): 13939 - 13948.
[Abstract] [Full Text] [PDF]

Home page
 J Child NeurolHome page
C. Y. Tsao and G. Paulson
Type 1 Ataxia With Oculomotor Apraxia With Aprataxin Gene Mutations in Two American Children
J Child Neurol, July 1, 2005; 20(7): 619 - 620.
[Abstract] [PDF]

Home page
 J. Biol. Chem.Home page
H. F. Seidle, P. Bieganowski, and C. Brenner
Disease-associated Mutations Inactivate AMP-Lysine Hydrolase Activity of Aprataxin
J. Biol. Chem., June 3, 2005; 280(22): 20927 - 20931.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
C. Criscuolo, P. Mancini, F. Sacca, G. De Michele, A. Monticelli, L. Santoro, V. Scarano, S. Banfi, and A. Filla
Ataxia with oculomotor apraxia type 1 in Southern Italy: Late onset and variable phenotype
Neurology, December 14, 2004; 63(11): 2173 - 2175.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
R. Amouri, M. -C. Moreira, M. Zouari, G. El Euch, C. Barhoumi, M. Kefi, S. Belal, M. Koenig, and F. Hentati
Aprataxin gene mutations in Tunisian families
Neurology, September 14, 2004; 63(5): 928 - 929.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
N. Gueven, O. J. Becherel, A. W. Kijas, P. Chen, O. Howe, J. H. Rudolph, R. Gatti, H. Date, O. Onodera, G. Taucher-Scholz, et al.
Aprataxin, a novel protein that protects against genotoxic stress
Hum. Mol. Genet., May 15, 2004; 13(10): 1081 - 1093.
[Abstract] [Full Text] [PDF]

Home page
 BrainHome page
I. Le Ber, N. Bouslam, S. Rivaud-Pechoux, J. Guimaraes, A. Benomar, C. Chamayou, C. Goizet, M.-C. Moreira, S. Klur, M. Yahyaoui, et al.
Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients
Brain, April 1, 2004; 127(4): 759 - 767.
[Abstract] [Full Text] [PDF]

Home page
 BrainHome page
I. Le Ber, M.-C. Moreira, S. Rivaud-Pechoux, C. Chamayou, F. Ochsner, T. Kuntzer, M. Tardieu, G. Said, M.-O. Habert, G. Demarquay, et al.
Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies
Brain, December 1, 2003; 126(12): 2761 - 2772.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2003 by AAN Enterprises, Inc.