Aprataxin gene mutations in Tunisian families.
The authors report clinical and genetic study of 13 patients from three unrelated Tunisian families with an early onset cerebellar ataxia associated with oculomotor apraxia. Cerebellar ataxia with oculomotor apraxia 1 (AOA1) represents a clinically heterogeneous disease caused by mutations in the aprataxin gene. Two novel mutations were identified, the complete deletion of the gene, which seems to not correlate with an increased severity of the disease, and a splice mutation on the acceptor splice site of exon 7.
Amouri
R
R
Institut National de Neurologie, Département de Biologie Moléculaire et de Neuropathologie,CNRS/INSERM Université Louis Pasteur, Illkirch, CHU de Strasbourg, France.
Moreira
M-C
MC
Zouari
M
M
El Euch
G
G
Barhoumi
C
C
Kefi
M
M
Belal
S
S
Koenig
M
M
Hentati
F
F
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001072:Apraxias / Q000453:epidemiology / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D005808:Genes, Recessive; D005838:Genotype; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics; D034141:Hypoalbuminemia / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D015840:Oculomotor Nerve Diseases / Q000453:epidemiology / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction; D022821:RNA Splice Sites / Q000235:genetics*; D012678:Sensation Disorders / Q000453:epidemiology / Q000235:genetics; D013132:Spinocerebellar Degenerations / Q000453:epidemiology / Q000235:genetics*; D014416:Tunisia / Q000453:epidemiology
C438188:APTX protein, human; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D022821:RNA Splice Sites