eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | apraxia |
| Comorbidity | |ataxia |
| Sentences | 61 |
| PubMedID- 26256098 | Mutations in aptx cause an inherited human disease syndrome characterized by early-onset progressive ataxia with ocular motor apraxia (aoa1). |
| PubMedID- 19593598 | ataxia with oculomotor apraxia (aoa) type 2 (aoa2 mim 606002) is a recessive subtype of aoa characterized by cerebellar atrophy, oculomotor apraxia, early loss of reflexes, and peripheral neuropathy. |
| PubMedID- 22736457 | ataxia with oculomotor apraxia type 1, another recessive ataxia, shares the biochemical features of susceptibility to dna damage with at (for a review, see rass et al., 2007), but also has no clear increased risk of neoplasia (le ber et al., 2003). |
| 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- 25822250 | The human helicase senataxin (setx) has been linked to the neurodegenerative diseases amyotrophic lateral sclerosis (als4) and ataxia with oculomotor apraxia (aoa2). |
| PubMedID- 21212468 | Defective in zinc finger protein in controlling cellular dna repair processes may link to several human neurological disorders, such as ataxia with oculomotor apraxia 1 and spinocerebellar ataxia with axonal neuropathy 1 [50]. |
| PubMedID- 26332941 | ataxia with oculomotor apraxia type 2 in the canadian aboriginal population. |
| PubMedID- 26331048 | ataxia with occulomotor apraxia type 2 (aoa2) is a rare autosomal recessive cerebellar ataxia caused by mutations in the senataxin gene (setx) [1]. |
| 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- 25787807 | ataxia with oculomotor apraxia type 2: not always an easy diagnosis. |
| PubMedID- 25462094 | Two novel mutations of the setx gene and ataxia with oculomotor apraxia type 2. |
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