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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease cerebellar ataxia
Comorbidity C0442874|neuropathy
Sentences 31
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- 21451431 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome: a histopathologic case report.
PubMedID- 23536040 Functional loss of tdp1 causes spinocerebellar ataxia with axonal neuropathy type 1 (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- 25130975 Neurophysiological evidence for generalized sensory neuronopathy in cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome.
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- 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- 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- 22155078 Substitution of the second histidine specifically to arginine contributes to the neurodegenerative disease spinocerebellar ataxia with axonal neuropathy (scan1).
PubMedID- 23941260 Setx mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.
PubMedID- 24637776 Mutations in tdp1 give rise to spinocerebellar ataxia with axonal neuropathy (scan1) [17].
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- 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- 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- 21619691 The clinical features vary widely from sensory neuropathy with little cerebellar ataxia to cerebellar ataxia with little sensory neuropathy.
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- 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- 24493735 A homozygous mutation of tdp1 causes spinocerebellar ataxia with axonal neuropathy 1 (scan1), an autosomal recessive neurodegenerative syndrome (16).
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- 24719117 Mutations in dnajc29 lead to cerebellar ataxia with peripheral neuropathy, which is referred to as arsacs.
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- 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- 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- 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- 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- 26054379 Peripheral neuropathy in spinocerebellar ataxia type 1, 2, 3, and 6.
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.

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