Immunological abnormalities in patients with early-onset ataxia with ocular motor apraxia and hypoalbuminemia

T Kato, Y Tamura, H Matsumoto, O Kobayashi… - Clinical …, 2021 - Elsevier
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH) is a
neurodegenerative disorder caused by mutation in the aprataxin (APTX)-coding gene APTX …

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

M Hirano, R Matsumura, Y Nakamura, K Saigoh… - Journal of the …, 2017 - Elsevier
Introduction Early onset ataxia with ocular motor apraxia and hypoalbuminemia
(EAOH)/ataxia with oculomotor apraxia 1 (AOA1) is an autosomal recessive disorder caused …

Aprataxin (APTX) gene mutations resembling multiple system atrophy

Y Baba, RJ Uitti, KB Boylan, Y Uehara… - Parkinsonism & Related …, 2007 - Elsevier
Mutations of the aprataxin (APTX) gene cause early-onset ataxia with ocular motor apraxia
and hypoalbuminemia (EAOH), also called ataxia with oculomotor apraxia type 1. Recent …

Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis

S D'Arrigo, D Riva, S Bulgheroni… - Journal of child …, 2008 - journals.sagepub.com
Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive disease
characterized by early-onset and slowly progressive cerebellar ataxia, areflexia, and …

A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: phenotypical and genotypical characterization

M Ferrarini, G Squintani, T Cavallaro, S Ferrari… - Journal of the …, 2007 - Elsevier
Ataxia oculomotor apraxia type 1 (AOA1) is the most common form of autosomal recessive
ataxia in Japan, and the second in Portugal after Friedreich ataxia. AOA1 is typically …

Early-onset Ataxia with ocular motor apraxia and hypoalbuminemia/Ataxia with oculomotor apraxia

M Tada, A Yokoseki, T Sato, T Makifuchi… - Diseases of DNA …, 2010 - Springer
D NA single-strand breaks (SSBs) are non-overlapping discontinuities in strands of a DNA
duplex. Significant attention has been given on the DNA SSB repair (SSBR) system in …

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

R Albaradie, A Alharbi, G Alsaffar… - Experimental and …, 2022 - spandidos-publications.com
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 …

Short half-lives of ataxia-associated aprataxin proteins in neuronal cells

M Hirano, H Asai, T Kiriyama, Y Furiya, T Iwamoto… - Neuroscience …, 2007 - Elsevier
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH)/ataxia with
oculomotor apraxia type 1 (AOA1) is caused by mutations in the gene encoding aprataxin …

Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit

G Yoon, R Westmacott, L MacMillan, N Quercia… - Case …, 2009 - casereports.bmj.com
Ataxia with oculomotor apraxia type 1 (AOA1) is a recently described autosomal-recessive
neurodegenerative condition of childhood onset. It is caused by mutations in the APTX gene …

Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein

Y Sano, H Date, S Igarashi, O Onodera… - Annals of Neurology …, 2004 - Wiley Online Library
Early‐onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH) is an autosomal
recessive neurodegenerative disorder characterized by early‐onset ataxia, ocular motor …