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PedAM

Pediatric Disease Annotations & Medicines




Disease ataxia
Phenotype |oculomotor apraxia
Sentences 58
PubMedID- 25868131 ataxia with oculomotor apraxia types 1-3 (aoa1, 2, and 3) result in a neurodegenerative and cellular phenotype similar to at; however, the basis of this phenotypic similarity is unclear.
PubMedID- 23097646 Apl-related chorea is common in children and it is important to exclude other possible causes, such as sydenham’s chorea, benign hereditary chorea, dna repair diseases (ataxia-telangiectasia, ataxia with oculomotor apraxia type 1 and 2), wilson’s disease, pantothenate kinase-associated neurodegeneration (walker, 2011).
PubMedID- 25725227 Dominantly inherited mutations were documented in rare juvenile-onset, motor neuron disease pedigrees in a familial form of amyotrophic lateral sclerosis (als4), while recessive mutations were found to cause a severe early-onset ataxia with oculomotor apraxia (aoa2) that is actually the second most common recessive ataxia after freidreich's ataxia.
PubMedID- 21211720 Of note, mutations in the helicase domain of the human sen1 gene ortholog setx (encoding senataxin) cause the neurodegenerative diseases, ataxia with oculomotor apraxia type ii (aoaii), and juvenile amyotrophic lateral sclerosis (als4).
PubMedID- 24760770 Mutations in setx cause the recessive disorder ataxia with oculomotor apraxia type 2 (aoa2) and a dominant juvenile form of amyotrophic lateral sclerosis (als4).
PubMedID- 24161509 Mutations in aptx and tdp1 have been reported to cause both ataxia with oculomotor apraxia type 1 (aoa1, for aptx) [23] and spinocerebellar ataxia with axonal neuropathy type 1 (scan1, for tdp1) [24] with both presenting with ataxia, a feature often, although not exclusively, associated with mitochondrial disease [25].
PubMedID- 23276302 Mutations in aptx account for several neurodegenerative disorders, including ataxia with oculomotor apraxia type 1 (aoa1) [41,42].
PubMedID- 21576111 Senataxin is encoded by the setx gene and is mainly involved in two different neurodegenerative diseases, the dominant juvenile form of amyotrophic lateral sclerosis type 4 and a recessive form of ataxia with oculomotor apraxia type 2.

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