Aprataxin mutations are a rare cause of early onset ataxia in Germany

Habeck, M; Zühlke, Christine; Bentele, K. H. P.; Unkelbach, Stephan; Kreß, Wolfram; Bürk, Katrin; Schwinger, E.; Hellenbroich, Yorck

doi:10.1007/s00415-004-0374-7

Cited by 27 publications

(10 citation statements)

References 6 publications

(12 reference statements)

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“…Early‐onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH)/ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive form of cerebellar ataxia that occurs most commonly in Japan and frequently in many other countries 1–7. The causative gene for EAOH/AOA1 encodes aprataxin (APTX), a member of histidine triad superfamily.…”

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confidence: 99%

DNA single‐strand break repair is impaired in aprataxin‐related ataxia

Hirano

Yamamoto

Mori

et al. 2007

Annals of Neurology

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confidence: 99%

DNA single‐strand break repair is impaired in aprataxin‐related ataxia

Hirano

Yamamoto

Mori

et al. 2007

Annals of Neurology

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“…To look for AOA1 mutations, we screened the APTX gene in a group of 165 early onset ataxia patients and detected two nonrelated cases homozygous for the W293X nonsense mutation. One patient was heterozygous for the nonsense mutations W221X and Q240X [2] . Regarding AOA2, in the SETX gene of 100 DNA samples, seven different point mutations (P311L, M386T, L584V, T760A, D1077N, C1554G, R1606X) and a four-nucleotide deletion were found.…”

Section: Resultsmentioning

confidence: 99%

Investigation of Recessive Ataxia Loci in Patients with Young Age of Onset

Zühlke¹,

Bernard²,

Gillessen‐Kaesbach³

2007

Neuropediatrics

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Autosomal recessive cerebellar ataxias are a phenotypically and genetically heterogeneous group of diseases. Major forms can be distinguished on the basis of clinical signs, age of onset, biochemical parameters or genotypes. To develop rational diagnostic strategies, phenotypic information, e.g., age of onset combined with population-specific disease frequencies could be highly favourable. We tested this hypothesis for single candidate loci and mutations in North European ataxia patients with juvenile and early adult onset. While we could prove that Friedreich ataxia (FRDA) is frequent in Germany, only few patients with ataxia-oculomotor apraxia type 1 (AOA1) and type 2 (AOA2) were diagnosed. The frequency of the mitochondrial recessive ataxia syndrome (MIRAS) and the infantile onset spinocerebellar ataxia (IOSCA) in this population remains unknown since no case with the common mutation of the corresponding gene was detected.

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“…Although AOA1 affected individuals with mutations in APTX have been identified world wide; 13 individuals from 3 unrelated Tunisian family [6], 2 unrelated individuals from Germany [24], 3 unrelated Italian individuals [25], 2 American children [26] and 4 Caucasians with ataxia and CoQ10 deficiency [27], yet comprehensive screening by direct sequencing of the APTX gene did not identify any mutations in these 3 Saudi families. Microsatellite analysis further excluded this gene as disease causing in these families.…”

Section: Discussionmentioning

confidence: 99%

Clinical and Molecular Characterization of Ataxia with Oculomotor Apraxia Patients In Saudi Arabia

et al. 2011

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BackgroundAutosomal recessive ataxias represent a group of clinically overlapping disorders. These include ataxia with oculomotor apraxia type1 (AOA1), ataxia with oculomotor apraxia type 2 (AOA2) and ataxia-telangiectasia-like disease (ATLD). Patients are mainly characterized by cerebellar ataxia and oculomotor apraxia. Although these forms are not quite distinctive phenotypically, different genes have been linked to these disorders. Mutations in the APTX gene were reported in AOA1 patients, mutations in SETX gene were reported in patients with AOA2 and mutations in MRE11 were identified in ATLD patients. In the present study we describe in detail the clinical features and results of genetic analysis of 9 patients from 4 Saudi families with ataxia and oculomotor apraxia.MethodsThis study was conducted in the period between 2005-2010 to clinically and molecularly characterize patients with AOA phenotype. Comprehensive sequencing of all coding exons of previously reported genes related to this disorder (APTX, SETX and MRE11).ResultsA novel nonsense truncating mutation c.6859 C > T, R2287X in SETX gene was identified in patients from one family with AOA2. The previously reported missense mutation W210C in MRE11 gene was identified in two families with autosomal recessive ataxia and oculomotor apraxia.ConclusionMutations in APTX , SETX and MRE11 are common in patients with autosomal recessive ataxia and oculomotor apraxia. The results of the comprehensive screening of these genes in 4 Saudi families identified mutations in SETX and MRE11 genes but failed to identify mutations in APTX gene.

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Aprataxin mutations are a rare cause of early onset ataxia in Germany

Cited by 27 publications

References 6 publications

DNA single‐strand break repair is impaired in aprataxin‐related ataxia

DNA single‐strand break repair is impaired in aprataxin‐related ataxia

Investigation of Recessive Ataxia Loci in Patients with Young Age of Onset

Clinical and Molecular Characterization of Ataxia with Oculomotor Apraxia Patients In Saudi Arabia

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