Unexpectedly mild phenotype in an ataxic family with a two-base deletion in the APTX gene

Hirano, Minoru; Matsumura, Ryusuke; Nakamura, Yusaku; Saigoh, Kazumasa; Sakamoto, Hikaru; Ueno, Shu‐ichi; Inoue, H.; Kusunoki, Susumu

doi:10.1016/j.jns.2017.04.049

Cited by 5 publications

(2 citation statements)

References 15 publications

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“…Although additional accumulation of patients will be needed to draw firm conclusions, the MRI abnormalities might be a clue to the associations of the ATXN8OS gene, as with nonsymptomatic atrophy in the hippocampus in VCP -related ALS. 14 , 26 …”

Section: Discussionmentioning

confidence: 99%

Noncoding repeat expansions for ALS in Japan are associated with the ATXN8OS gene

Hirano

Samukawa

Isono³

et al. 2018

Neurol Genet

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ObjectiveTo assess the contribution of noncoding repeat expansions in Japanese patients with amyotrophic lateral sclerosis (ALS).MethodsSporadic ALS in Western countries is frequently associated with noncoding repeat expansions in the C9ORF72 gene. Spinocerebellar ataxia type 8 (SCA8) is another noncoding repeat disease caused by expanded CTA/CTG repeats in the ATXN8OS gene. Although the involvement of upper and lower motor neurons in SCA8 has been reported, a positive association between SCA8 and ALS remains unestablished. Spinocerebellar ataxia type 36 is a recently identified disease caused by noncoding repeat expansions in the NOP56 gene and is characterized by motor neuron involvement. We collected blood samples from 102 Japanese patients with sporadic ALS and analyzed the ATXN8OS gene by the PCR–Sanger sequencing method and the C9ORF72 and NOP56 genes by repeat-primed PCR assay.ResultsThree patients with ALS (3%) had mutations in the ATXN8OS gene, whereas no patient had a mutation in the C9ORF72 or NOP56 gene. The mutation-positive patients were clinically characterized by neck weakness or bulbar-predominant symptoms. None of our patients had apparent cerebellar atrophy on MRI, but 2 had nonsymptomatic abnormalities in the white matter or putamen.ConclusionsOur finding reveals the importance of noncoding repeat expansions in Japanese patients with ALS and extends the clinical phenotype of SCA8. Three percent seems small but is still relatively large for Japan, considering that the most commonly mutated genes, including the SOD1 and SQSTM1 genes, only account for 2%–3% of sporadic patients each.

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Section: Discussionmentioning

confidence: 99%

Noncoding repeat expansions for ALS in Japan are associated with the ATXN8OS gene

Hirano

Samukawa

Isono³

et al. 2018

Neurol Genet

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“…In a consanguineous Iranian family with hereditary AOA1 (five affected and six unaffected individuals), WES revealed a novel homozygous stop-gain APTX gene mutation (c.739A>T; p.Lys247*) (3). Hirano et al (24) identified a homozygous two-base deletion in the middle of exon 3 of the APTX gene. Karimzadeh et al (25) reported a homozygous frameshift mutation, c.418_418 del, in the APTX gene.…”

Section: Discussionmentioning

confidence: 99%

Ataxia with oculomotor apraxia type 1 associated with mutation in the APTX gene: A case study and literature review

Albaradie¹,

Alharbi²,

Alsaffar³

et al. 2022

Exp Ther Med

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Cerebellar ataxia is a disorder characterized by a broad spectrum of phenotypes. Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive disease presenting with early-onset and slowly progressing cerebellar ataxia, areflexia and peripheral axonal neuropathy. Mutations in the APTX gene c.751C>T p.(His251Tyr) were detected with probable homozygosity in the APTX gene (chromosome 9) that encodes a nuclear protein called aprataxin that is involved in DNA repair. AOA1 also contributes to neuronal development and function. Ocular apraxia is most prominent in the early stages of the disease, while hypoalbuminemia, hypercholesterolemia and cognitive impairment are common symptoms in the adult stage. The present study reported the clinical features of an 8-year-old female patient with mutations in the APTX gene and discussed the differential diagnosis from other forms of hereditary ataxia.

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Phenotypic and molecular diversities of spinocerebellar ataxia type 2 in Japan

Inada

Hirano

Oka³

et al. 2021

J Neurol

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Unexpectedly mild phenotype in an ataxic family with a two-base deletion in the APTX gene

Cited by 5 publications

References 15 publications

Noncoding repeat expansions for ALS in Japan are associated with the ATXN8OS gene

Noncoding repeat expansions for ALS in Japan are associated with the ATXN8OS gene

Ataxia with oculomotor apraxia type 1 associated with mutation in the APTX gene: A case study and literature review

Phenotypic and molecular diversities of spinocerebellar ataxia type 2 in Japan

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