eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | axonal neuropathy |
| Comorbidity | C0004134|ataxia |
| Sentences | 19 |
| PubMedID- 20687496 | Spinocerebellar ataxia with axonal neuropathy. |
| PubMedID- 24637776 | Mutations in tdp1 give rise to spinocerebellar ataxia with axonal neuropathy (scan1) [17]. |
| 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- 22522093 | The h493r mutation, when the histidine 493 is replaced by arginine, is responsible for the autosomal recessive neurodegenerative disease, spinocerebellar ataxia with axonal neuropathy (scan1). |
| PubMedID- 22415824 | Tyrosyl dna phosphodiesterase 1 (tdp1) repairs dna breaks and is mutated in the disease spinocerebellar ataxia with axonal neuropathy. |
| PubMedID- 24493735 | A homozygous mutation of tdp1 causes spinocerebellar ataxia with axonal neuropathy 1 (scan1), an autosomal recessive neurodegenerative syndrome (16). |
| 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- 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- 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- 20301284 | Spinocerebellar ataxia with axonal neuropathy, autosomal recessive |
| PubMedID- 21045516 | An acute motor and sensory axonal neuropathy with cerebellar ataxia associated with anti-gd1b igg and anti-gm1 igg antibodies. |
| 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- 20936170 | A recessive mutation in the human (tdp1) gene is responsible for the inherited disorder, spinocerebellar ataxia with axonal neuropathy (scan1) [72]. |
| PubMedID- 23536040 | Functional loss of tdp1 causes spinocerebellar ataxia with axonal neuropathy type 1 (scan1). |
| 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- 22155078 | Substitution of the second histidine specifically to arginine contributes to the neurodegenerative disease spinocerebellar ataxia with axonal neuropathy (scan1). |
| PubMedID- 26331048 | The unusual combination of an elevated afp in an apparent ‘autosomal-dominant’ ataxia with axonal neuropathy led to the consideration of an atypically inherited aoa2. |
| 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- 20876339 | In human, mutations of the tdp1 gene are involved in the disease spinocerebellar ataxia with axonal neuropathy. |
Page: 1