eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | ataxia |
| Comorbidity | C0270921|axonal neuropathy |
| Sentences | 19 |
| PubMedID- 24637776 | Mutations in tdp1 give rise to spinocerebellar ataxia with axonal neuropathy (scan1) [17]. |
| PubMedID- 22214184 | A point mutation (h493r) in the human tdp1 gene is physiologically important, as, in the homozygous state, it is responsible for scan1 (spinocerebellar ataxia with axonal neuropathy), an autosomal recessive neurodegenerative syndrome [12]. |
| PubMedID- 20876339 | In human, mutations of the tdp1 gene are involved in the disease spinocerebellar ataxia with axonal neuropathy. |
| PubMedID- 22522093 | The importance of tdp1 in humans is highlighted by the observation that a recessive mutation in the tdp1 is responsible for the inherited disorder, spinocerebellar ataxia with axonal neuropathy (scan1) [15,20] in which a h493r mutation in the tdp1 causes the accumulation of both top1-dna and tdp1-dna covalent intermediates in vivo[13,21–23]. |
| PubMedID- 20687496 | Spinocerebellar ataxia with axonal neuropathy. |
| PubMedID- 21246735 | Cerebellar degeneration is the most common neurological presentation of at, which is also a shared feature among at least three distinct hereditary diseases: spinocerebellar ataxia with axonal neuropathy 1 (scan1), ataxia oculomotor apraxia 1 (aoa1) and ataxia oculomotor apraxia 2 (aoa2). |
| PubMedID- 26331048 | Raised afp is not seen in other ataxias associated with severe axonal neuropathy (eg sca4, 18, 25, aoa1 and scan) [4]. |
| PubMedID- 21737425 | Mutations in the latter two genes, tdp1 and aptx, are causally linked to the neurodegenerative disorders spinocerebellar ataxia with axonal neuropathy (scan1) and ataxia-oculomotor apraxia 1 (aoa1), respectively (12–14). |
| PubMedID- 25872942 | In addition, defects in the repair of ssdna breaks also cause neurodegenerative diseases such as spino-cerebellar ataxia with axonal neuropathy 1, scan1 (omim #607251), caused by mutations in tyrosyl-dna phosphodiesterase 1 (tdp1), and microcephaly, seizures and developmental delay, mcsz syndrome (omim #613402), caused by mutations in polynucleotide kinase phosphatase (pnkp). |
| PubMedID- 22155078 | Substitution of the second histidine specifically to arginine contributes to the neurodegenerative disease spinocerebellar ataxia with axonal neuropathy (scan1). |
| PubMedID- 25327705 | This concept is best illustrated by a catalytic tdp1 mutant that forms the molecular basis of the autosomal recessive neurodegenerative disease spinocerebellar ataxia with axonal neuropathy, and results in an increased stability of its tdp1-dna reaction intermediate. |
| PubMedID- 20301284 | Spinocerebellar ataxia with axonal neuropathy (scan1) is characterized by late-childhood-onset slowly progressive cerebellar ataxia, followed by areflexia and signs of peripheral neuropathy. |
| PubMedID- 21045516 | An acute motor and sensory axonal neuropathy with cerebellar ataxia associated with anti-gd1b igg and anti-gm1 igg antibodies. |
| PubMedID- 20118933 | Pnkp has been further implicated in the repair pathway disrupted in an ataxic neurodegenerative disease, spinocerebellar ataxia with axonal neuropathy, scan1 (tdp1) (see supplementary information figure 6 for additional details). |
| PubMedID- 22415824 | Mutation of tyrosyl dna phosphodiesterase 1 (tdp1) underlies the demise of postmitotic neurons observed in the human genetic neurological disease spinocerebellar ataxia with axonal neuropathy1. |
| PubMedID- 24371269 | Epstein–barr virus-transformed lymphoblastoid cells derived from spinocerebellar ataxia with axonal neuropathy (scan1) patients and from unaffected relatives were obtained from dr james lupski, baylor school of medicine (12). |
| PubMedID- 20936170 | A recessive mutation in the human (tdp1) gene is responsible for the inherited disorder, spinocerebellar ataxia with axonal neuropathy (scan1) [72]. |
| PubMedID- 24493735 | A homozygous mutation of tdp1 causes spinocerebellar ataxia with axonal neuropathy 1 (scan1), an autosomal recessive neurodegenerative syndrome (16). |
| PubMedID- 23536040 | Functional loss of tdp1 causes spinocerebellar ataxia with axonal neuropathy type 1 (scan1). |
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