Ataxia with Oculomotor Apraxia Type 2: Novel Mutations in Six Patients with Juvenile Age of Onset and Elevated Serum α-Fetoprotein

被引：13

作者：

Bernard, V. ^{[1
]}

Stricker, S. ^{[2
]}

Kreuz, F. ^{[3
]}

Minnerop, M. ^{[4
,5
]}

Gillessen-Kaesbach, G. ^{[1
]}

Zuehlke, C. ^{[1
]}

机构：

[1] Univ Lubeck, Inst Humangenet, D-23538 Lubeck, Germany

[2] Charite Univ Med Berlin, Neurol Klin, D-13353 Berlin, Germany

[3] Gemeinschaftspraxis Humangenet, Dresden, Germany

[4] Univ Bonn, Neurol Klin, Bonn, Germany

[5] Forschungszentrum Julich, Inst Neurowissensch & Med, Julich, Germany

来源：

NEUROPEDIATRICS | 2008年 / 39卷 / 06期

关键词：

ataxia; AOA2; alpha-fetoprotein (AFP); recessive inheritance;

D O I：

10.1055/s-0029-1214424

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Ataxia with oculomotor apraxia type 2 (AOA2), a neurodegenerative disorder with juvenile to adolescent onset is caused by mutations within the senataxin gene (SETX). We performed molecular analyses in six patients showing clinically an AOA2 phenotype and moderate to significant elevated serum alpha-fetoprotein levels. Sequencing the 24 coding exons and flanking intronic sequences revealed 11 novel DNA variations, including seven Unknown missense mutations, a dinuclecitide deletion, a four-nucleotide deletion affecting the 5'splice site of exon 22 and two sequence variations, which are considered to be polymorphisms. By molecular testing the clinical diagnosis has been confirmed in all patients.

引用

页码：347 / 350

页数：4

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