PedAM
Pediatric Disease Annotations & Medicines
| Disease | ataxia |
| Phenotype | C0442874|neuropathy |
| Sentences | 49 |
| PubMedID- 24030952 | The phenotype is usually an early-onset spastic ataxia with a sensorimotor neuropathy, although some cases present later. |
| PubMedID- 20301284 | Spinocerebellar ataxia with axonal neuropathy, autosomal recessive |
| PubMedID- 21576111 | Except for an increased sensitivity to oxidative dna damaging agents shown by some ataxia with neuropathy patients' cell lines, no data are available about possible functional consequences of dominant setx mutations and no studies address the function of senataxin in neurons. |
| PubMedID- 20936170 | A recessive mutation in the human (tdp1) gene is responsible for the inherited disorder, spinocerebellar ataxia with axonal neuropathy (scan1) [72]. |
| PubMedID- 24253200 | Affected individuals share a core phenotype of rapidly progressive axonal sensorimotor neuropathy (manifesting with sensory ataxia, severe weakness of the upper limbs and axial muscles with distinctly preserved strength of the lower limbs), hearing loss, optic atrophy and respiratory insufficiency. |
| 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- 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- 21619691 | Also known as autosomal dominant sensory/motor neuropathy with ataxia, sca18 presents initially with an axonal sensory neuropathy with cerebellar ataxia and motor neuron dysfunction developing later [98]. |
| 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- 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- 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- 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- 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- 26331046 | The predominant features of mfs are ophthalmoplegia and ataxia, with a peripheral neuropathy being only a very mild 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- 21624989 | Sensory neuropathy as part of the cerebellar ataxia neuropathy vestibular areflexia syndrome. |
| PubMedID- 21045516 | An acute motor and sensory axonal neuropathy with cerebellar ataxia associated with anti-gd1b igg and anti-gm1 igg antibodies. |
| 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- 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- 24291973 | Fisher syndrome has been regarded peculiar inflammatory neuropathy with ophthalmoplegia, ataxia, and areflexia, whereas bickerstaff brainstem encephalitis has been considered pure central nervous system disease characterized with ophthalmoplegia, ataxia, and consciousness disturbance. |
| PubMedID- 24719117 | Mutations in dnajc29 lead to cerebellar ataxia with peripheral neuropathy, which is referred to as arsacs. |
| PubMedID- 23147504 | Most patients have sensory-motor neuropathy, sometimes associated with ophthalmoplegia, ataxia, seizures, parkinsonism, myopathy, or visceral disorders. |
| PubMedID- 23775789 | A mutation in tdp1 causes the neurodegenerative disease spinocerebellar ataxia with axonal neuropathy (scan1) (20,24,25). |
| 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- 22155078 | Substitution of the second histidine specifically to arginine contributes to the neurodegenerative disease spinocerebellar ataxia with axonal neuropathy (scan1). |
| PubMedID- 25130975 | Neurophysiological evidence for generalized sensory neuronopathy in cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome. |
| PubMedID- 20705737 | Novel, putative causative variants have recently been discovered for a variety of disorders [sensory/motor neuropathy with ataxia (32), clericuzio-type poikiloderma with neutropenia (33), familial exudative vitreoretinopathy (34), recessive non-syndromic hearing loss (35), talipes equinovarus, atrial septal defect, robin sequence, persistent left superior vena cava (36)] using genome capture to target linkage regions from the affected families. |
| PubMedID- 23536040 | Functional loss of tdp1 causes spinocerebellar ataxia with axonal neuropathy type 1 (scan1). |
| PubMedID- 25440017 | Canvas (cerebellar ataxia with neuropathy and vestibular areflexia syndrome) is a rare neurological syndrome of unknown etiology. |
| 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- 25957632 | Our patient exhibited a distal motor neuropathy with ataxia and an extrapyramidal syndrome of tremor and focal dystonia—an inexact fit with the previously described phenotypes of dctn1. |
| PubMedID- 24048674 | At dose levels 2-5 (b 1.3 mg/m(2)), patients manifested nt grades 3 and 4 at a median 3.4 cycles (range 2-9 cycles): 3 had ataxia (one also with sensory neuropathy or neurogenic hypotension, respectively) and 3 had just sensory neuropathy. |
| 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- 26251896 | A syndromic presentation, including sensory neuropathy with ataxia, dysarthria and ophthalmoparesis (sando), can also occur [60]. |
| PubMedID- 23587257 | [cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (canvas) in an imbalance patient]. |
| PubMedID- 23941260 | Setx mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein. |
| PubMedID- 21451431 | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome: a histopathologic case report. |
| 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- 24369383 | Molecular, clinical and peripheral neuropathy study of tunisian patients with ataxia with vitamin e deficiency. |
| PubMedID- 24637776 | Mutations in tdp1 give rise to spinocerebellar ataxia with axonal neuropathy (scan1) [17]. |
| PubMedID- 24493735 | A homozygous mutation of tdp1 causes spinocerebellar ataxia with axonal neuropathy 1 (scan1), an autosomal recessive neurodegenerative syndrome (16). |
| 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- 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- 20308997 | Diagnosis: subacute sensory ataxia with bilateral optic neuropathy related to thiamine deficiency resulting from remote partial gastrectomy. |
| 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- 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- 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- 22353293 | These tools were applied to a family with two individuals manifesting ataxia, associated with peripheral sensory neuropathy, athetosis, seizures, deafness, and ophthalmoplegia. |
| PubMedID- 22294875 | The disease neuropathy with muscle weakness, ataxia, and retinitis pigmentosa (narp) is caused by t8993g heteroplasmic mtdna mutations. |
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