Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage
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چکیده
منابع مشابه
Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage
A defective response to DNA damage is observed in several human autosomal recessive ataxias with oculomotor apraxia, including ataxia-telangiectasia. We report that senataxin, defective in ataxia oculomotor apraxia (AOA) type 2, is a nuclear protein involved in the DNA damage response. AOA2 cells are sensitive to H2O2, camptothecin, and mitomycin C, but not to ionizing radiation, and sensitivit...
متن کاملAtaxia with oculomotor apraxia type 2: an evolving axonal neuropathy.
A 23-year-old woman had presented initially to a podiatrist complaining of poorly fitting shoes during her adolescence. After extensive neurological review, she was diagnosed with ataxia with oculomotor apraxia type 2. This is a progressive autosomal recessive ataxia associated with cerebellar atrophy, peripheral neuropathy and an elevated serum α-fetoprotein. Within Europe, it is the most freq...
متن کاملCognitive Functions in Ataxia with Oculomotor Apraxia Type 2
BACKGROUND Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by cerebellar atrophy, peripheral neuropathy, oculomotor apraxia, and elevated serum alpha-fetoprotein (AFP) levels. The disease is caused by a recessive mutation in the senataxin gene. Since it is a very rare cerebellar disorder, no detailed examination of cognitive functions in AOA2 has been published to date. The aim of...
متن کاملErratum to: Ataxia with Oculomotor Apraxia Type 1 without Oculomotor Apraxia: A Case Report
This corrects the article on p. 126 in vol. 12, PMID: 26541496.
متن کاملAtaxia with Oculomotor Apraxia Type 1 without Oculomotor Apraxia: A Case Report.
Dear Editor, Ataxia with oculomotor apraxia type I (AOA1) is a recessively inherited ataxic disorder that is characterized clinically by the childhood onset of progressive cerebellar ataxia, oculomotor apraxia (OMA), and peripheral axonal sensorimotor neuropathy.1 Dystonia, chorea, and cognitive impairment are commonly associated symptoms, and hypoalbuminemia and hypercholesterolemia are often ...
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ژورنال
عنوان ژورنال: Journal of Clinical Neuroscience
سال: 2014
ISSN: 0967-5868
DOI: 10.1016/j.jocn.2013.11.048