[HTML][HTML] Ataxia with oculomotor apraxia type 2

MC Moreira, M Koenig - 2018 - europepmc.org
Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset of ataxia between
age three and 30 years after initial normal development, axonal sensorimotor neuropathy …

[HTML][HTML] Ataxia with oculomotor apraxia type 1

P Coutinho, C Barbot - 2015 - europepmc.org
Ataxia with oculomotor apraxia type 1 (AOA1) is characterized by childhood onset of slowly
progressive cerebellar ataxia, followed by oculomotor apraxia and a severe primary motor …

Clinical and molecular findings of ataxia with oculomotor apraxia type 2 in 4 families

M Anheim, MC Fleury, J Franques… - Archives of …, 2008 - jamanetwork.com
Background Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive
disease caused bySETXmutations in 9q34 resulting in cerebellar ataxia in association with …

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

M Anheim, B Monga, M Fleury, P Charles, C Barbot… - Brain, 2009 - academic.oup.com
Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease due to
mutations in the senataxin gene, causing progressive cerebellar ataxia with peripheral …

Atypical presentation of ataxia–oculomotor apraxia type 1

A Shahwan, PJ Byrd, AMR Taylor, T Nestor… - … medicine and child …, 2006 - cambridge.org
A subgroup of autosomal recessive cerebellar ataxias (ARCAs) associated with oculomotor
apraxia (OMA) and other variable features has been reported. Ataxia–oculomotor apraxia …

[HTML][HTML] Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein

LL Mariani, S Rivaud-Péchoux, P Charles… - Scientific Reports, 2017 - nature.com
Whether the recessive ataxias, Ataxia with oculomotor apraxia type 1 (AOA1) and 2 (AOA2)
and Ataxia telangiectasia (AT), can be distinguished by video-oculography and alpha …

Ataxia with oculomotor apraxia type 1 in Southern Italy: late onset and variable phenotype

C Criscuolo, P Mancini, F Sacca, G De Michele… - Neurology, 2004 - AAN Enterprises
Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive disorder
characterized by early-onset cerebellar ataxia, oculomotor apraxia, and peripheral …

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 …

[HTML][HTML] A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2)

K Nakamura, K Yoshida, H Makishita… - Journal of human …, 2009 - nature.com
We report a 67-year-old Japanese woman with ataxia with oculomotor apraxia type 2
(AOA2). She was born to consanguineous parents and showed a teenage onset, a slowly …

Spinocerebellar ataxia with ocular motor apraxia and DNA repair

O Onodera - Neuropathology, 2006 - Wiley Online Library
At least four disorders, ataxia telangiectasia (AT), an ataxia‐telangiectasia‐like disorder,
early‐onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH)/ataxia with …