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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease axonal neuropathy
Comorbidity C0007758|cerebellar ataxia
Sentences 20
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- 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- 20687496 Spinocerebellar ataxia with axonal neuropathy.
PubMedID- 24793032 We observed the endogenous accumulation of pathogenic topoisomerase-1 (top1)-dna cleavage complexes (top1ccs) in murine models of ataxia telangiectasia and spinocerebellar ataxia with axonal neuropathy 1.
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- 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- 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- 24637776 Mutations in tdp1 give rise to spinocerebellar ataxia with axonal neuropathy (scan1) [17].
PubMedID- 20876339 In human, mutations of the tdp1 gene are involved in the disease spinocerebellar ataxia with axonal neuropathy.
PubMedID- 23536040 Functional loss of tdp1 causes spinocerebellar ataxia with axonal neuropathy type 1 (scan1).
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- 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- 21246735 Ataxia telagiectasia (at), spinocerebellar ataxia with axonal neuropathy 1 (scan1), ataxia oculomotor apraxia 1 (aoa1), and ataxia ocuolomotor apraxia 2 (aoa2) are dna repair-related disorders that share cerebellar degeneration as the most striking clinical feature.
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- 22155078 Substitution of the second histidine specifically to arginine contributes to the neurodegenerative disease spinocerebellar ataxia with axonal neuropathy (scan1).
PubMedID- 20936170 A recessive mutation in the human (tdp1) gene is responsible for the inherited disorder, spinocerebellar ataxia with axonal neuropathy (scan1) [72].
PubMedID- 22508754 These are ataxia oculomotor apraxia-1 (aoa1), spinocerebellar ataxia with axonal neuropathy-1 (scan1) and microcephaly with early-onset intractable seizures and developmental delay (mcsz), which are caused by mutations in aprataxin (aptx), tyrosyl–dna phosphodiesterase 1 (tdp1) and polynucleotide kinase/phosphatase (pnkp), respectively (9–12).
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.

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