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Genotype–phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia

A Yokoseki, T Ishihara, A Koyama, A Shiga… - Brain, 2011 - Oxford Univ Press
Early onset ataxia with ocular motor apraxia and hypoalbuminaemia/ataxia–oculomotor apraxia
1 is a recessively inherited ataxia caused by mutations in the aprataxin gene. We previously
reported that patients with frameshift mutations exhibit a more severe phenotype than ...
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Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients

B Castellotti, C Mariotti, M Rimoldi, R Fancellu… - neurogenetics, 2011 - Springer
... AT), AT-like disorder (ATLD), ataxia with oculomotor apraxia type 1 (AOA1), and ataxia with
oculomotor apraxia type 2 (AOA2). ... Patients with APTX gene mutations underwent neurological
examination, brain MRI, motor and sensory nerve conduction studies, and biochemical ...
Cited by 2 - Related articles - All 2 versions

Aprataxin localizes to mitochondria and preserves mitochondrial function

P Sykora, DL Croteau, VA Bohr… - Proceedings of the …, 2011 - National Acad Sciences
... and transferases, and it removes 5′-AMP groups that arise from aborted DNA ligation reactions
(3–6). The clinical symptoms of AOA1 include global cerebellar atrophy characterized by loss
of Purkinje cells, ocular motor apraxia, and motor and sensory neuropathy (7–13). ...
Cited by 1 - Related articles - All 3 versions

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

[PDF] from biomedcentral.comS Bohlega, J Shinwari, L Al Sharif… - BMC Medical …, 2011 - biomedcentral.com
... [3]. Patients with AOA2 present with gait ataxia, cerebellar atrophy, sensory- motor neuropathy,
ocular-motor apraxia and elevated immunoglobulins and alpha-fetoprotein levels with an age
of onset (10-22years)[4]. In addition patients with Ataxia-Telangiectasia-Like ...
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Apraxia Impairs Intentional Retrieval of Incidentally Acquired Motor Knowledge

[HTML] from cjb.netA Dovern, GR Fink, J Saliger, H Karbe… - The Journal of …, 2011 - neuro.cjb.net
Apraxia caused by left hemispheric stroke typically impairs skilled sequential movements. After
stroke, apraxic patients need to reacquire motor skills by motor learning. The current study assessed
for the first time incidental motor sequence learning in apraxic patients. Forty-eight human ...
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