PedAM
Pediatric Disease Annotations & Medicines
| Disease | neuropathy |
| Phenotype | C0007758|cerebellar ataxia |
| Sentences | 38 |
| 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 (scan 1) is an autosomal recessive disorder caused by a specific point mutation (c.1478a>g, p.h493r) in the tyrosyl-dna phosphodiesterase (tdp1) gene. |
| 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- 24793032 | Here we identify the endogenous accumulation of pathogenic topoisomerase-1-dna cleavage complexes (top1cc) in murine models of ataxia telangiectasia and spinocerebellar ataxia with axonal neuropathy 1. we also show that the defective dna damage response factors in these two diseases cooperatively modulate top1cc turnover in a non-epistatic and atm kinase-independent manner. |
| PubMedID- 22084197 | Tdp1 has an essential role in humans as mutation in the tdp1 gene results in the hereditary disease scan1 (spinocerebellar ataxia with axonal neuropathy-1), a degenerative neurological syndrome specifically affecting neurons (48). |
| PubMedID- 25130975 | Introduction: cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (canvas) is a recently described multisystem ataxia defined by the presence of cerebellar ataxia, bilateral vestibulopathy, and a somatosensory deficit. |
| PubMedID- 24719117 | Mutations in dnajc29 lead to cerebellar ataxia with peripheral neuropathy, which is referred to as arsacs. |
| PubMedID- 23104055 | Tdp1 deficiency is linked to the neurological disease spinocerebellar ataxia with axonal neuropathy (scan1)31,32 and tdp2 activity on 3′-linked topoisomerase adducts appears important in the absence of tdp1 (ref. |
| PubMedID- 20301284 | Spinocerebellar ataxia with axonal neuropathy, autosomal recessive |
| PubMedID- 21451431 | cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome: a histopathologic case report. |
| 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- 23203191 | The neurodegenerative disorder spinocerebellar ataxia with axonal neuropathy-1 (scan1) originates from mutated tyrosyl phosphodiesterase 1 (tdp1), a protein involved in the repair of dna ssb [293]. |
| PubMedID- 21619691 | The clinical features vary widely from sensory neuropathy with little cerebellar ataxia to cerebellar ataxia with little sensory neuropathy. |
| 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- 23587257 | [cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (canvas) in an imbalance patient]. |
| PubMedID- 23091534 | These cases include optic neuropathy with dystonia, parkinsonism, cerebellar ataxia, and myoclonus.3-6 the present case exhibited optic neuropathy with horizontal gaze palsy, gaze-evoked nystagmus, and cerebellar ataxia, and olivocerebellar degeneration on neuroimaging. |
| PubMedID- 23626666 | (a) human lymphoblastoid cells (lcls) derived from a normal individual ‘wt’, spinocerebellar ataxia with axonal neuropathy ‘scan1’, or ataxia telangiectasia ‘a–t’ patients, and mouse embryonic fibroblasts (mefs) or quiescent cortical astrocytes from control ‘wt’ or tdp1-/- mice were incubated with dmso (mock) or 30 µm camptothecin (cpt) for 40 min with or without pre-incubation with 10 µm atm inhibitor ku-55933 (atmi) for 2 hours at 37°c. |
| PubMedID- 25440017 | cerebellar ataxia with neuropathy and vestibular areflexia syndrome (canvas) - a case report and review of literature. |
| PubMedID- 23941260 | Setx mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein. |
| PubMedID- 22125427 | Spinocerebellar ataxia with axonal neuropathy 1 (scan1) is caused by autosomal recessive mutations in the gene encoding tyrosyl-dna phosphodiesterase 1 (tdp1), a protein required for the repair of dna single-strand breaks that arise independent of dna replication from abortive topoisomerase 1 activity or oxidative stress. |
| PubMedID- 24493735 | A homozygous mutation of tdp1 causes spinocerebellar ataxia with axonal neuropathy 1 (scan1), an autosomal recessive neurodegenerative syndrome (16). |
| PubMedID- 21624989 | We propose a new name for the condition: cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (canvas). |
| PubMedID- 20936170 | A recessive mutation in the human (tdp1) gene is responsible for the inherited disorder, spinocerebellar ataxia with axonal neuropathy (scan1) [72]. |
| PubMedID- 24637776 | Mutations in tdp1 give rise to spinocerebellar ataxia with axonal neuropathy (scan1) [17]. |
| PubMedID- 24166963 | The visually enhanced vestibulo-ocular reflex (vvor) was impaired (video on the neurology((r)) web site at www.neurology.org, figure 1) and the diagnosis of cerebellar ataxia (figure 2) with neuropathy and bilateral vestibular areflexia syndrome (canvas) was made.(1) canvas is considered to be a recessive disorder with a mean age at onset of 60 years.(2) vvor impairment is its characteristic clinical sign.(2) it can only be elicited if both smooth-pursuit eye movements and the vestibulo-ocular reflex are deficient. |
| 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- 24682971 | Objective: to elucidate the neuropathology in cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (canvas), a novel cerebellar ataxia comprised of the triad of cerebellar impairment, bilateral vestibular hypofunction, and a peripheral sensory deficit. |
| PubMedID- 23536040 | Functional loss of tdp1 causes spinocerebellar ataxia with axonal neuropathy type 1 (scan1). |
| PubMedID- 23584155 | Mild optic neuropathy has been associated with spinocerebellar ataxia type 1 (sca1), but macular dysfunction has been reported in only 2 cases. |
| PubMedID- 21045516 | An acute motor and sensory axonal neuropathy with cerebellar ataxia associated with anti-gd1b igg and anti-gm1 igg antibodies. |
| 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- 22155078 | Substitution of the second histidine specifically to arginine contributes to the 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- 23775789 | A mutation in tdp1 causes the neurodegenerative disease spinocerebellar ataxia with axonal neuropathy (scan1) (20,24,25). |
| 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- 25564090 | Background: cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (canvas) is a multi-system ataxia which results in cerebellar ataxia, a bilateral vestibulopathy and a somatosensory deficit. |
| 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- 26054379 | Peripheral neuropathy in spinocerebellar ataxia type 1, 2, 3, and 6. |
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