PedAM

Pediatric Disease Annotations & Medicines

Disease	cerebellar ataxia
Phenotype	C0442874\|neuropathy
Sentences	37
PubMedID- 25440017	Canvas (cerebellar ataxia with neuropathy and vestibular areflexia syndrome) is a rare neurological syndrome of unknown etiology.
PubMedID- 23587257	[cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (canvas) in an imbalance patient].
PubMedID- 21451431	cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome: a histopathologic case report.
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- 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- 24637776	Mutations in tdp1 give rise to spinocerebellar ataxia with axonal neuropathy (scan1) [17].
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- 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- 21624989	We propose a new name for the condition: cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (canvas).
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- 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- 20936170	A recessive mutation in the human (tdp1) gene is responsible for the inherited disorder, spinocerebellar ataxia with axonal neuropathy (scan1) [72].
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- 24493735	A homozygous mutation of tdp1 causes spinocerebellar ataxia with axonal neuropathy 1 (scan1), an autosomal recessive neurodegenerative syndrome (16).
PubMedID- 21619691	The clinical features vary widely from sensory neuropathy with little cerebellar ataxia to cerebellar ataxia with little sensory neuropathy.
PubMedID- 25130975	Neurophysiological evidence for generalized sensory neuronopathy in cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome.
PubMedID- 23941260	Setx mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.
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- 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- 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- 26054379	Peripheral neuropathy in spinocerebellar ataxia type 1, 2, 3, and 6.
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- 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- 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- 22155078	Substitution of the second histidine specifically to arginine contributes to the neurodegenerative disease spinocerebellar ataxia with axonal neuropathy (scan1).
PubMedID- 21045516	An acute motor and sensory axonal neuropathy with cerebellar ataxia associated with anti-gd1b igg and anti-gm1 igg antibodies.
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- 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- 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- 24719117	Mutations in dnajc29 lead to cerebellar ataxia with peripheral neuropathy, which is referred to as arsacs.
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- 23775789	A mutation in tdp1 causes the neurodegenerative disease spinocerebellar ataxia with axonal neuropathy (scan1) (20,24,25).
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- 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- 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.

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