ライフサイエンスコーパス: ataxia

1 thy causing cerebellar vermis hypoplasia and ataxia.

2 ons, particularly in the absence of clinical ataxia.

3 ld of patients suspected of having a genetic ataxia.

4 presentation of daytime somnolence and gait ataxia.

5 tor subunit Grid2 is associated with Lurcher ataxia.

6 rly confirmed autosomal recessive cerebellar ataxia.

7 ially diagnosed with or tested for inherited ataxia.

8 xonal neuropathy, and progressive cerebellar ataxia.

9 ur patients had a subacute-onset and sensory ataxia.

10 s of ataxia in 1500 patients with cerebellar ataxia.

11 th paraneoplastic opsoclonus, myoclonus, and ataxia.

12 , we enrolled 605 patients with Friedreich's ataxia.

13 of upcoming clinical trials of Friedreich's ataxia.

14 learning and altered mGluR1 signaling causes ataxia.

15 of transcriptional deficiency in Friedreich ataxia.

16 eveloping mGluR1-based pharmacology to treat ataxia.

17 tigating the natural history of Friedreich's ataxia.

18 ignalling in the mouse 'ducky(2J) ' model of ataxia.

19 ry myelitis, postural tremor, and cerebellar ataxia.

20 with HSP, intellectual disability (ID), and ataxia.

21 ged mGluR1 currents and rescued the moderate ataxia.

22 als had microcephaly, psychomotor delay, and ataxia.

23 d neuroprotective treatment for Friedreich's ataxia.

24 ibose) polymerase/s as a cause of cerebellar ataxia.

25 sembly lead to diseases such as Friedreich's ataxia.

26 9 unrelated patients diagnosed with episodic ataxia.

27 hereditary spastic paraplegia and cerebellar ataxia.

28 in a humanized murine model of Friedreich's ataxia.

29 ioural deficits associated with Friedreich's ataxia.

30 amily history, the remaining having sporadic ataxia.

31 t was associated with early onset cerebellar ataxia.

32 ic interventions for immune and some genetic ataxias.

33 iagnosis was achieved in 57% of all familial ataxias.

34 eristics, it was later focused on hereditary ataxias.

35 reatment, which is currently unavailable for ataxias.

36 ts 0.91, 0.86-0.96, p=0.0012; and cerebellar ataxia 0.82, 0.74-0.91, p=0.0002).

37 0%]), finger paresthesia (1 event [5%]), and ataxia (1 event [5%]).

38 one of three major syndromic categories: (1) ataxia, (2) spasticity and (3) global neurodevelopmental

39 notype of mildly progressive pure cerebellar ataxia, 21/26 (81%) exhibited additional complicating fe

40 commonest genetic ataxias were Friedreich's ataxia (22%), SCA6 (14%), EA2 (13%), SPG7 (10%) and mito

41 ommonest cause of sporadic ataxia was gluten ataxia (25%).

42 xicity of RAN translation in spinocerebellar ataxia 31.

43 Spinocerebellar ataxia 38 (SCA38) is caused by mutations in the ELOVL5 g

44 le seizures (14), other seizures (16), acute ataxia (4), and other sub-acute syndromes (transverse my

45 7 of 57]), myoclonic jerks (86% [49 of 57]), ataxia (54% [29 of 54]), and vomiting (54% [29 of 54]) w

46 ele-specific silencing using spinocerebellar ataxia 7 (SCA7) as a model.

47 However, studies in models of Friedreich ataxia, a neurodegenerative and cardiodegenerative disea

48 silence frataxin expression in Friedreich's ataxia, a terminal neurodegenerative disease with no eff

49 pmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable cognitive i

50 A are a frequent cause of hereditary spastic ataxias, accounting for about 3% of hitherto genetically

51 ermore, we show that the genes implicated in ataxia, although seemingly unrelated, appear to encode f

52 plicated in neurological diseases, including ataxias, amyotrophic lateral sclerosis, nucleotide expan

53 nformatics; this in turn has made hereditary ataxias an especially well-developed model group of dise

54 urological phenotypes, featuring early-onset ataxia and absence seizure without significant alteratio

55 d neurodegenerative disease characterized by ataxia and cardiomyopathy.

56 ve in their 30s and 40s and show predominant ataxia and cerebellar atrophy features on imaging.

57 The children presented congenital ataxia and cerebellar vermis hypoplasia with elongated s

58 BE manifests in progressive ophthalmoplegia, ataxia and consciousness disturbances.

59 ofoundly decreased proprioception leading to ataxia and dysmetria that were markedly worse in the abs

60 nset encephalopathy with cerebellar atrophy, ataxia and dystonia.

61 , nucleotide expansion disorders (Friedreich ataxia and fragile X syndrome), and cancer.

62 ion of Zfp106 in mice results in progressive ataxia and hindlimb paralysis associated with motor neur

63 red in the differential diagnosis of spastic ataxia and hypomyelination.

64 a de novo p.R294H mutation in a proband with ataxia and ID.

65 ound to cause autosomal recessive cerebellar ataxia and intellectual disability syndrome in humans.

66 14-associated autosomal-recessive cerebellar ataxia and intellectual disability syndrome, and three f

67 ffect that is associated with juvenile-onset ataxia and intellectual disability.

68 sease characterized by paroxysmal attacks of ataxia and nystagmus.

69 ortholog is linked to type 2 spinocerebellar ataxia and other complex neuronal disorders.

70 vodopa-unresponsive parkinsonism, cerebellar ataxia and pyramidal symptoms.

71 nduced hyperlocomotion, stereotype behavior, ataxia and social withdrawal.

72 n that often includes early-onset nystagmus, ataxia and spasticity and a wide range of severity.

73 ainly a relatively pure cerebellar recessive ataxia and that it is largely limited to Quebec.

74 oss or other neurological features including ataxia and/or cerebellar atrophy on brain MRI.

75 erature on 67 autosomal recessive cerebellar ataxias and personal clinical experience.

76 ivation of frataxin expression (Friedreich's ataxia) and production of active survival motor neuron 2

77 different families to adult-onset cerebellar ataxia, and a de novo truncation mutation resulting in a

78 severe epilepsy, developmental problems and ataxia, and atrophy of the cerebellum or even the whole

79 ed transaminase levels, liver fibrosis, mild ataxia, and cognitive impairment.

80 ined for each autosomal recessive cerebellar ataxia, and corresponding prediction scores were assigne

81 ed by intellectual disability, speech delay, ataxia, and facial dysmorphism and carrying a deleteriou

82 tal hypotonia, structural CNS malformations, ataxia, and genitourinary abnormalities.

83 ciated with fragile X syndrome, Friedreich's ataxia, and Huntington's disease, and correctly flagged

84 s of Wernicke-Korsakoff syndrome: confusion, ataxia, and ophthalmoplegia or nystagmus.

85 lasia, congenital hypotonia, non-progressive ataxia, and progressive cerebellar atrophy.

86 m.8993T>G mtDNA, associated with neuropathy, ataxia, and retinitis pigmentosa (NARP).

87 ry signaling, extended lifespan, and rescued ataxia, apraxia, and social abnormalities but did not re

88 Progressive limb spasticity and cerebellar ataxia are frequently found together in clinical practic

89 Immune-mediated ataxias are common.

90 orate dysfunction associated with cerebellar ataxias are considered.

91 e measures for clinical trials on cerebellar ataxias are lacking.

92 Cerebellar ataxias are the result of diverse disease processes that

93 basket cell terminals of mice harbouring an ataxia-associated mutation and their wild-type littermat

94 cological blockade of Kv1.1 or by a dominant ataxia-associated mutation.

95 a key pathological event in genetic forms of ataxia but the underlying mechanisms remain unclear.

96 ns in Purkinje neuron firing often accompany ataxia, but the molecular basis for these changes is poo

97 tures on MRI are sometimes seen with spastic ataxia, but this is usually mild in adults and severe an

98 nto severe intellectual disability, profound ataxia, camptocormia and oculomotor apraxia.

99 diagnosis of autosomal recessive cerebellar ataxias can be challenging.

100 hereditary spastic paraplegia and cerebellar ataxia cases (n = 618) for mutations in POLR3A and ident

101 s outside Canada, revise the view that SYNE1 ataxia causes mainly a relatively pure cerebellar recess

102 yield following attendance at the Sheffield Ataxia Centre was 63%.

103 All patients were referred to the Sheffield Ataxia Centre, UK, and underwent extensive investigation

104 sfunction that explains behavioural signs of ataxia characteristic of the disease.

105 Importance: The hereditary progressive ataxias comprise genetic disorders that affect the cereb

106 The European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) is

107 nces, such as (GAA)n repeats in Friedreich's ataxia, (CTG)n repeats in myotonic dystrophy, and (CGG)n

108 Cerebellar ataxias currently lack a curative agent.

109 Clinical symptoms of gait ataxia, diplopia, cognitive impairment, and facial parae

110 e the new syndrome of myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK), includi

111 ception and small-diameter axons, but severe ataxia due to preferential degeneration of large-diamete

112 isorder characterized by gait abnormalities, ataxia, dysarthria, dystonia, vertical gaze palsy, and c

113 ncy): peripheral neuropathy, 53%; cerebellar ataxia, dysmetria, or dysarthria, 38%; and encephalopath

114 Patients with Type 6 episodic ataxia (EA6) have mutations of the excitatory amino acid

115 cits in motor coordination characteristic of ataxia, effects which can be prevented by CB1 R antagoni

116 The algorithm outperformed the panel of ataxia experts (p = 0.001).

117 nded panel of autosomal recessive cerebellar ataxia experts.

118 e sequencing findings in a recessive spastic ataxia family turned our attention to intronic variants

119 Friedreich's ataxia (FRDA) is a neurodegenerative disease caused by i

120 Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerativ

121 Friedreich ataxia (FRDA) is an inherited neurodegenerative disease

122 There were 383 patients with Friedreich's ataxia (FRDA), 205 patients with SCA and 168 controls.

123 tations in Frataxin (FXN) cause Friedreich's ataxia (FRDA), a recessive neurodegenerative disorder.

124 Friedreich's ataxia (FRDA), the most common inherited ataxia, is caus

125 Non-Ataxia Signs (INAS), the Spinocerebellar Ataxia Functional Index (SCAFI), phonemic verbal fluency

126 ch is characterized by congenital cerebellar ataxia, hypotonia, oculomotor apraxia, and mental retard

127 The commonest ataxia identified was EA2.

128 We describe the causes of ataxia in 1500 patients with cerebellar ataxia.

129 d reduced the loss of cerebellar neurons and ataxia in Xrcc1-defective mice, identifying a molecular

130 sease which is characterized by weight loss, ataxia, increased cholesterol storage, loss of cerebella

131 ar findings were seen in the spinocerebellar ataxias, indicating an association between DNA damage-re

132 Friedreich's ataxia is a devastating neurological disease currently l

133 Ataxia is a progressive and devastating degenerative mov

134 Episodic ataxia is an autosomal dominant ion channel disorder cha

135 Friedreich's ataxia is an incurable genetic disorder caused by a muta

136 core for each autosomal recessive cerebellar ataxia is calculated, producing a ranking of possible di

137 minant peripheral neuropathy causing sensory ataxia is characteristic of copper deficiency usually co

138 Making a diagnosis of the cause of ataxia is essential due to potential therapeutic interve

139 epigenetic promoter silencing in Friedreich ataxia is reversible, and the results implicate class I

140 edreich ataxia, the most prevalent inherited ataxia, is caused by an expanded GAA triplet-repeat sequ

141 h's ataxia (FRDA), the most common inherited ataxia, is caused by recessive mutations that reduce the

142 Mice lacking SLC25A46 displayed severe ataxia, mainly caused by degeneration of Purkinje cells.

143 d autosomal recessively inherited cerebellar ataxia manifesting before 2 years of age.

144 il1 has potential implications for the human ataxia Marinesco-Sjogren syndrome, where it is interesti

145 cid, in ATG5 in two siblings with congenital ataxia, mental retardation, and developmental delay.

146 ns in WDR81, previously linked to cerebellar ataxia, mental retardation, and disequilibrium syndrome

147 ype-1 (EA1), characterized by stress-induced ataxia, myokymia, and increased prevalence of seizures.

148 ors caused by autosomal recessive cerebellar ataxias, myorhythmia, isolated tongue tremor, Wilson's d

149 2), varied neuropathies (n = 4), cerebellar ataxia (n = 1), autoimmune retinopathy (n = 1), bilatera

150 res (n = 14), other seizures (n = 16), acute ataxia (n = 4), and other subacute syndromes (transverse

151 correcting potassium channel dysfunction in ataxia need to be tailored to the specific stage in the

152 nerative disease autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS) is caused by loss

153 Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is caused by muta

154 We studied a mutation found in episodic ataxia of the dual-function glutamate transporter/anion

155 ry, and cranial nerve neuropathy, often with ataxia, optic atrophy and respiratory problems leading t

156 s that are classified either as pure spastic ataxia or as complex spastic ataxia with additional neur

157 l hemorrhage, of whom none had hearing loss, ataxia, or myelopathy.

158 morrhage, of whom 39 (83%) had hearing loss, ataxia, or myelopathy; type 2 (secondary) iSS included 1

159 Ataxia-pancytopenia (AP) syndrome is characterized by ce

160 of neuromuscular disorders with features of ataxia, paralysis, skeletal muscle wasting, and degenera

161 even individuals with an early-onset spastic-ataxia phenotype.

162 Most cerebellar ataxias progress very slowly and quantitative measuremen

163 46, p = 0.008) and International Cooperative Ataxia Rating Scale (MD = +3.8, 95% CI = +1.39 to + 6.41

164 In this review we summarize ataxia-related changes in PN neurophysiology that have b

165 ficantly enriched in 1139 cases with spastic ataxia-related phenotypes as compared to unrelated neuro

166 ereditary spastic paraplegias and cerebellar ataxias remain genetically unexplained, implicating nove

167 pment of hand stereotypies, anxiety, tremor, ataxia, respiratory dysrhythmias, and seizures.

168 e and Scale for the Assessment and Rating of Ataxia (SARA), in patients with spinocerebellar ataxia (

169 s the Scale for the Assessment and Rating of Ataxia (SARA).

170 g the Scale for the Assessment and Rating of Ataxia (SARA; mean difference [MD] = +2.70, 95% confiden

171 xia (SARA), in patients with spinocerebellar ataxia (SCA) and controls.

172 Spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of

173 The autosomal dominant spinocerebellar ataxias (SCAs) are caused by a variety of protein coding

174 evelopmental delay, intellectual disability, ataxia, seizures and a happy affect.

175 Secondary outcomes were the Inventory of Non-Ataxia Signs (INAS), the Spinocerebellar Ataxia Function

176 may lead to a synaptopathy characterized by ataxia, skeletal muscles weakness and numbness of the ex

177 nine presented with a history of progressive ataxia, starting around three months of age.

178 ity, and many individuals exhibit cerebellar ataxia, subtle facial dysmorphism, strabismus, and vesic

179 or neurological diseases related to episodic ataxia, such as hemiplegia, migraine, and epilepsy.

180 ical rating scale to detect deterioration of ataxia symptoms over time; ADL is an appropriate measure

181 Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder

182 Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurological disorder that

183 Fragile X-associated tremor/ataxia syndrome (FXTAS) is one such condition, resulting

184 erexpression and Fragile X-associated tremor/ataxia syndrome (FXTAS), a late-onset neurodegenerative

185 erative disorder fragile X-associated tremor/ataxia syndrome (FXTAS), primary ovarian insufficiency,

186 in patients with fragile X-associated tremor/ataxia syndrome (FXTAS), with no targeted treatment yet

187 d CGG repeats in fragile X-associated tremor/ataxia syndrome is initiated at an upstream ACG near-cog

188 lity of newly synthesized COX2 (the dystonia-ataxia syndrome protein COX20), a protein with two trans

189 review includes fragile X-associated tremor/ataxia syndrome, spinocerebellar ataxia type 12, tremors

190 naJC19 results in dilated cardiomyopathy and ataxia syndrome, whereas expression of DnaJC15 regulates

191 peats that cause fragile X-associated tremor/ataxia syndrome.

192 such as ALS and fragile X-associated tremor/ataxia syndrome.

193 Ataxia telangiectasia (A-T) is a syndrome associated wit

194 of unknown etiology are commonly observed in ataxia telangiectasia (AT) and Artemis deficiency.

195 ATR (ataxia telangiectasia and Rad-3-related) is a protein ki

196 Ataxia telangiectasia and Rad3-related (ATR) mediates re

197 ed PH domains, which inhibits recruitment of Ataxia telangiectasia and Rad3-related protein (ATR) and

198 ion of the replication stress sensing kinase ataxia telangiectasia and Rad3-related protein (ATR) red

199 licative stress leading to activation of the ataxia telangiectasia and Rad3-related protein (ATR)-med

200 silencing of ataxia telangiectasia mutated, ataxia telangiectasia and Rad3-related protein, and DNA-

201 Mutations in ATR(ataxia telangiectasia and RAD3-related) cause Seckel syn

202 subtype that showed increased sensitivity to ataxia telangiectasia inhibition, and a neuroendocrine-a

203 CLY) is phosphorylated at S455 downstream of ataxia telangiectasia mutated (ATM) and AKT following DN

204 strated by the DNA damage checkpoint kinases ATAXIA TELANGIECTASIA MUTATED (ATM) and ATM AND RAD3-REL

205 TP53 and ataxia telangiectasia mutated (ATM) defects are associat

206 ther the DNA damage response mediated by the Ataxia Telangiectasia Mutated (ATM) kinase may affect th

207 ced at one Igkappa allele signal through the ataxia telangiectasia mutated (ATM) kinase to feedback-i

208 on DNA-dependent protein kinase (DNA-PK) and Ataxia telangiectasia mutated (ATM) signaling.

209 These 3 responses are ataxia telangiectasia mutated (ATM)-dependent and promot

210 The ataxia telangiectasia mutated (ATM)-interacting protein

211 double strand breaks (DSBs), as indicated by ataxia telangiectasia mutated (ATM)-mediated H2AX phosph

212 chronic lymphocytic leukemia (CLL) where the ataxia telangiectasia mutated (ATM)-p53 pathway is inact

213 d DNA damage response marker, phosphorylated ataxia telangiectasia mutated (pATM), were quantified in

214 rticipant in PKA-mediated phosphorylation of ataxia telangiectasia mutated and Rad3-related (ATR) at

215 The ataxia telangiectasia mutated and Rad3-related (ATR) kin

216 is induced selectively by DSBs through ATM (ataxia telangiectasia mutated) as a unique mechanism to

217 However, silencing of ataxia telangiectasia mutated, ataxia telangiectasia and

218 ter DNA damage, and this dissociation may be ataxia telangiectasia mutated-dependent.

219 NA-dependent kinase, encoded by PRKDC), ATM (ataxia telangiectasia, mutated), and ATR (ATM and Rad3-r

220 for this process in cells deficient for the ataxia telangiectasia-mutated (ATM) DSB response factor.

221 genitor colony formation required NF-kappaB, ataxia telangiectasia-mutated (ATM), and the inhibitor o

222 Decreased levels of p53, but not Hdm2 or ataxia telangiectasia-mutated (ATM), were seen after exp

223 le of the DNA damage response protein kinase ataxia telangiectasia-mutated (ATM)- and Rad-3-related (

224 phosphoinositide 3-kinase-like kinases ATM (ataxia telangiectasia-mutated) and ATR (ATM and Rad3-rel

225 f disease states, including malignancies and ataxia telangiectasia.

226 ic promoter region of DNA repair kinase ATR (ataxia-telangiectasia and Rad3-related protein) and acts

227 nal SANT/Myb-like domain of nuclear protein, ataxia-telangiectasia locus (NPAT), a transcriptional co

228 s that coordinate recognition of DNA damage, ataxia-telangiectasia mutated (ATM) and PARP-1, were ind

229 previously reported a novel inhibitor of the ataxia-telangiectasia mutated (ATM) kinase, which is a t

230 Upon DNA damage, the protein kinase ataxia-telangiectasia mutated (ATM) phosphorylates 53BP1

231 Ataxia-telangiectasia mutated (ATM) plays a unique yet i

232 The ataxia-telangiectasia mutated (ATM) protein is an apical

233 Ataxia-telangiectasia mutated (ATM) regulates the DNA da

234 romic CIDs, autosomal recessive mutations in ataxia-telangiectasia mutated (ATM), autosomal dominant

235 on 5, which led to the downregulation of the ataxia-telangiectasia mutated DNA damage pathway and the

236 cell-cycle checkpoints via activation of the ataxia-telangiectasia mutated kinase.

237 ced gastric cancer, especially in those with ataxia-telangiectasia mutated protein (ATM)-negative tum

238 le-strand break repair is the recruitment of ataxia-telangiectasia mutated serine/threonine kinase (A

239 ATM (ataxia-telangiectasia mutated) and ATR (ATM and Rad3-rel

240 erlie other neurodegenerative disorders (eg, ataxia-telangiectasia), and DNA double-strand breaks are

241 the hereditary cancer-susceptibility disease ataxia-telangiectasia-like disorder (ATLD).

242 ) by the DNA damage-activated protein kinase ataxia-telangiectasia-mutated (ATM) and casein kinase1 (

243 M (encoding the DNA-damage signaling kinase, ataxia-telangiectasia-mutated) increase Familial Pancrea

244 Friedreich ataxia, the most prevalent inherited ataxia, is caused b

245 e evaluated two scales for rating cerebellar ataxias: the Composite Cerebellar Functional Severity (C

246 diagnoses of autosomal recessive cerebellar ataxias, thereby guiding targeted sequencing or facilita

247 ns included marked hypermetric and dysmetric ataxia, truncal sway, intention tremors and absent menac

248 V.miS1), to a mouse model of spinocerebellar ataxia type 1 (SCA1; B05 mice).

249 A heterozygous mouse model of episodic ataxia type 1 harboring a dominant Kv1.1 mutation had a

250 Episodic ataxia type 1 is caused by missense mutations of the pot

251 in-associated autosomal recessive cerebellar ataxia Type 1 pathology likely arises from poorly contro

252 in-associated autosomal recessive cerebellar ataxia Type 1, but molecular mechanisms linking betaIII

253 es of a mouse model of human spinocerebellar ataxia type 1, SCA1, where mice exhibit only moderate mo

254 (AUUCU) repeats, that causes spinocerebellar ataxia type 10 (SCA10) in patient-derived cells.

255 ated tremor/ataxia syndrome, spinocerebellar ataxia type 12, tremors caused by autosomal recessive ce

256 odegenerative disease termed spinocerebellar ataxia type 13 (SCA13).

257 Spinocerebellar ataxia type 13 is a rare autosomal-dominant neurodegener

258 heterogeneous and is classified as episodic ataxia type 2 (EA2) when it is caused by a mutation in t

259 human CaV2.1 subunit are linked to episodic ataxia type 2 (EA2), a dominantly inherited disease char

260 ociated with the cerebellar disease episodic ataxia type 2 (EA2).

261 Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegen

262 We find in a spinocerebellar ataxia type 2 (SCA2) mouse model that calcium homeostasi

263 In a mouse model of spinocerebellar ataxia type 2 (SCA2), a progressive reduction in Purkinj

264 apies in two mouse models of spinocerebellar ataxia type 2 (SCA2), an autosomal dominant polyglutamin

265 Episodic ataxia type 2 is caused by mutations in CACNA1A, which e

266 Cav2.1 dysfunction in episodic ataxia type 2 thus has unexpected effects on axon excita

267 families with genetically confirmed episodic ataxia type 2 underwent neurophysiological assessment to

268 Spinocerebellar ataxia type 23 (SCA23) is caused by missense mutations i

269 Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disorder cau

270 causes neurodegeneration in Spinocerebellar Ataxia Type 3 (SCA3), one of nine inherited, incurable d

271 on's disease and ataxin 3 in spinocerebellar ataxia type 3 (SCA3).

272 n-3, the protein involved in spinocerebellar ataxia type 3, also known as Machado-Joseph disease, cau

273 xp) repeats, responsible for spinocerebellar ataxia type 31 (SCA31) in Drosophila, causes neurodegene

274 Spinocerebellar ataxia type 35 (SCA35) is a rare autosomal-dominant neur

275 Spinocerebellar ataxia type 5 (SCA5) is a neurodegenerative disease caus

276 A spinocerebellar ataxia type 5 (SCA5) L253P mutation in the actin-binding

277 Our data suggest that spinocerebellar ataxia Type 5 and spectrin-associated autosomal recessiv

278 neurodegenerative syndromes, spinocerebellar ataxia Type 5, and spectrin-associated autosomal recessi

279 nical and clinical stages of spinocerebellar ataxia type 6 (SCA6), an inherited neurodegenerative dis

280 tamine tract associated with spinocerebellar ataxia type 6 (SCA6), whereas MPc splices to an immediat

281 associated with the human disorder Episodic Ataxia Type-1 (EA1), characterized by stress-induced ata

282 in-associated autosomal recessive cerebellar ataxia type-1 (SPARCA1) are mirrored in mice lacking bet

283 ause spectrin associated autosomal recessive ataxia type-1 (SPARCA1), an infantile form of ataxia wit

284 Clinical phenotypes of spinocerebellar ataxia type-5 (SCA5) and spectrin-associated autosomal r

285 (AP) syndrome is characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposit

286 Gait ataxia was a common feature.

287 The commonest cause of sporadic ataxia was gluten ataxia (25%).

288 Ataxia was present early, but quickly became overshadowe

289 ramidal or peripheral motor involvement, and ataxia were associated with worse disease severity.

290 The commonest genetic ataxias were Friedreich's ataxia (22%), SCA6 (14%), EA2

291 insonism and MSA with predominant cerebellar ataxia, which generally correlate with striatonigral deg

292 centage of Nramp1(+/+) mice developed severe ataxia, which was associated with high bacterial loads i

293 presented for evaluation of progressive gait ataxia with a superimposed spastic paraparesis.

294 as pure spastic ataxia or as complex spastic ataxia with additional neurological signs.

295 taxia type-1 (SPARCA1), an infantile form of ataxia with cognitive impairment.

296 ized by adolescent-onset progressive spastic ataxia with frequent occurrence of tremor, involvement o

297 DNA termini and that, if mutated, results in ataxia with oculomotor apraxia 4 (AOA4) and microcephaly

298 e linked to two neurodegenerative disorders: ataxia with oculomotor apraxia type 2 (AOA2) and amyotro

299 ntation consists of a progressive cerebellar ataxia, with a variable age at onset and rate of progres

300 %, SYNE1 is one of the more common recessive ataxias worldwide.