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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease ataxia
Comorbidity C0442874|neuropathy
Sentences 42
PubMedID- 25130975 Neurophysiological evidence for generalized sensory neuronopathy in cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome.
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- 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- 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- 23941260 Setx mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.
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- 20308997 Diagnosis: subacute sensory ataxia with bilateral optic neuropathy related to thiamine deficiency resulting from remote partial gastrectomy.
PubMedID- 24369383 Molecular, clinical and peripheral neuropathy study of tunisian patients with ataxia with vitamin e deficiency.
PubMedID- 21624989 We propose a new name for the condition: cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (canvas).
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- 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- 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- 26331046 The predominant features of mfs are ophthalmoplegia and ataxia, with a peripheral neuropathy being only a very mild clinical feature.
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- 22294875 The disease neuropathy with muscle weakness, ataxia, and retinitis pigmentosa (narp) is caused by t8993g heteroplasmic mtdna mutations.
PubMedID- 24493735 A homozygous mutation of tdp1 causes spinocerebellar ataxia with axonal neuropathy 1 (scan1), an autosomal recessive neurodegenerative syndrome (16).
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- 20301284 Spinocerebellar ataxia with axonal neuropathy, autosomal recessive
PubMedID- 21451431 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome: a histopathologic case report.
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- 20936170 A recessive mutation in the human (tdp1) gene is responsible for the inherited disorder, spinocerebellar ataxia with axonal neuropathy (scan1) [72].
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- 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- 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- 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- 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- 24030952 The phenotype is usually an early-onset spastic ataxia with a sensorimotor neuropathy, although some cases present later.
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- 23536040 Functional loss of tdp1 causes spinocerebellar ataxia with axonal neuropathy type 1 (scan1).
PubMedID- 23587257 [cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (canvas) in an imbalance patient].
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- 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- 24719117 Mutations in dnajc29 lead to cerebellar ataxia with peripheral neuropathy, which is referred to as arsacs.
PubMedID- 25440017 Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (canvas) - a case report and review of literature.
PubMedID- 21619691 The clinical features vary widely from sensory neuropathy with little cerebellar ataxia to cerebellar ataxia with little sensory neuropathy.
PubMedID- 23147504 Most patients have sensory-motor neuropathy, sometimes associated with ophthalmoplegia, ataxia, seizures, parkinsonism, myopathy, or visceral disorders.
PubMedID- 24637776 Mutations in tdp1 give rise to spinocerebellar ataxia with axonal neuropathy (scan1) [17].
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- 23584155 Mild optic neuropathy has been associated with spinocerebellar ataxia type 1 (sca1), but macular dysfunction has been reported in only 2 cases.
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.

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