Early-onset ataxia with oculomotor apraxia and hypoalbuminemia

An early-onset autosomal recessive cerebellar ataxia characterized by peripheral axonal neuropathy, oculomotor apraxia (defined as the limitation of ocular movements on command), and hypoalbuminemia. Mutations in the APTX gene have been identified. OMIM: 208920

Also Known As:

Ataxia, Adult-Onset, With Oculomotor Apraxia; Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia; Ataxia-oculomotor apraxia 1; Ataxia-oculomotor apraxia syndrome; Ataxia-telangiectasia-like syndrome; Cerebellar Ataxia, Early-Onset, With Hypoalbuminemia; Early-Onset Ataxia with Ocular Motor Apraxia and Hypoalbuminemia; Early-onset cerebellar ataxia with hypoalbuminemia

Networked: 12 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Neurodegenerative Diseases (Neurodegenerative Disease)
2.	Ataxia (Dyssynergia)
3.	Early-onset ataxia with oculomotor apraxia and hypoalbuminemia
4.	autosomal recessive 1 Spinocerebellar ataxia
5.	Spinocerebellar Ataxias (Spinocerebellar Ataxia)

Experts

1.	Onodera, Osamu: 4 articles (01/2021 - 01/2009)
2.	Reynolds, John J: 3 articles (01/2013 - 03/2009)
3.	Caldecott, Keith W: 3 articles (06/2009 - 11/2004)
4.	Yokoseki, Akio: 2 articles (01/2021 - 01/2010)
5.	El-Khamisy, Sherif F: 2 articles (06/2009 - 03/2009)
6.	Brenner, Charles: 2 articles (11/2004 - 07/2002)
7.	Hasegawa, Yasuhiro: 1 article (01/2021)
8.	Houzen, Hideki: 1 article (01/2021)
9.	Imai, Kohsuke: 1 article (01/2021)
10.	Ishiguro, Hideaki: 1 article (01/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Early-onset ataxia with oculomotor apraxia and hypoalbuminemia:

1.	DNA (Deoxyribonucleic Acid)IBA 03/01/2009 - "Defective DNA ligation during short-patch single-strand break repair in ataxia oculomotor apraxia 1." 01/01/2021 - "Early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH) is a neurodegenerative disorder caused by mutation in the aprataxin (APTX)-coding gene APTX, which is involved in DNA single-strand break repair (SSBR). " 01/01/2013 - "In particular, defects in the repair of DNA single strand breaks, one of the most commonly occurring types of DNA lesion, have been associated with three neuropathological diseases: ataxia oculomotor apraxia 1, spinocerebellar ataxia with neuronal neuropathy 1 and microcephaly, early-onset, intractable seizures and developmental delay. " 01/01/2010 - "Significant attention has been given on the DNA SSB repair (SSBR) system in neurons, because the impairment of the SSBR causes human neurodegenerative disorders, including early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH), also known as ataxia-oculomotor apraxia Type 1 (AOA1). " 06/01/2009 - "AOA1 (ataxia oculomotor apraxia-1) results from mutations in aprataxin, a component of DNA strand break repair that removes AMP from 5'-termini. "
2.	Adenosine Monophosphate (AMP)IBA 06/01/2009 - "AOA1 (ataxia oculomotor apraxia-1) results from mutations in aprataxin, a component of DNA strand break repair that removes AMP from 5'-termini. " 03/01/2009 - "Ataxia oculomotor apraxia 1 (AOA1) results from mutations in aprataxin, a component of DNA strand break repair that removes AMP from 5' termini. " 05/25/2023 - "Aprataxin (APTX), the product of the causative gene for hereditary neurogenerative syndromes Ataxia-oculomotor apraxia 1 and early onset ataxia with oculomotor apraxia and hypoalbuminemia, has an enzymatic activity of removing adenosine monophosphate from DNA 5'-end, which arises from abortive ligation by DNA ligases. "
3.	AldehydesIBA 11/01/2009 - "We have demonstrated by in vitro assay that aprataxin, the causative gene product for early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ ataxia with oculomotor apraxia type 1 (EAOH/AOA1), specifically removes 3'-phosphoglycolate and 3'-phosphate ends at DNA 3'-ends, but not 3'-alpha, beta-unsaturated aldehyde ends. " 01/01/2009 - "We have demonstrated by in vitro assay that aprataxin, the causative gene product for early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia type 1 (EAOH/AOA1), specifically removes 3'-phosphoglycolate and 3'-phosphate ends at DNA 3'-ends, but not 3'-alpha, beta-unsaturated aldehyde ends. "
4.	Proteins (Proteins, Gene)FDA Link 11/02/2004 - "The ataxia-oculomotor apraxia 1 gene product has a role distinct from ATM and interacts with the DNA strand break repair proteins XRCC1 and XRCC4."
5.	DNA Ligases (Ligases, DNA)IBA 05/25/2023 - "Aprataxin (APTX), the product of the causative gene for hereditary neurogenerative syndromes Ataxia-oculomotor apraxia 1 and early onset ataxia with oculomotor apraxia and hypoalbuminemia, has an enzymatic activity of removing adenosine monophosphate from DNA 5'-end, which arises from abortive ligation by DNA ligases. "
6.	HydrolasesIBA 07/23/2002 - "Aprataxin, a Hint branch hydrolase, is mutated in ataxia-oculomotor apraxia syndrome. "
7.	GTP Cyclohydrolase (GTP Cyclohydrolase I)IBA 11/01/2003 - "Here, I reviewed the characteristic symptoms and their pathophysiologies of Rett syndrome, DYT-1, autosomal dominant GTP cyclohydrolase I (ADGCH I) deficiency, Tourette syndrome (TS) and Early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH), and suggested that the brainstem aminergic neurons modulating the locomotion have roles for development of the frontal cortex, the dopaminergic neurons and basal ganglia pathways involving in the action dystonia for motor execution and the serotonergic and the dopaminergic neurons projectioning to the nonmotor basal ganglia thalamocortical circuits for development of the frontal area, the targets of the circuits. "
8.	coenzyme Q10 (CoQ10)IBA 01/23/2007 - "APTX gene mutations responsible for ataxia-oculomotor apraxia 1 (AOA1) were identified in a family previously reported with ataxia and coenzyme Q10 (CoQ10) deficiency. "

Therapies and Procedures

Ligation

03/01/2009 - "Defective DNA ligation during short-patch single-strand break repair in ataxia oculomotor apraxia 1."
05/25/2023 - "Aprataxin (APTX), the product of the causative gene for hereditary neurogenerative syndromes Ataxia-oculomotor apraxia 1 and early onset ataxia with oculomotor apraxia and hypoalbuminemia, has an enzymatic activity of removing adenosine monophosphate from DNA 5'-end, which arises from abortive ligation by DNA ligases. "