ライフサイエンスコーパス: cerebellar ataxia

1 diseases (hereditary spastic paraplegia and cerebellar ataxia).

2 patients presenting with chronic progressive cerebellar ataxia.

3 tive denervation on electromyography without cerebellar ataxia.

4 center for evaluation of chronic progressive cerebellar ataxia.

5 on that is usually dominated by dementia and cerebellar ataxia.

6 nd steroids, with partial improvement of the cerebellar ataxia.

7 stones, along with learning difficulties and cerebellar ataxia.

8 f the disease, most notably, the progressive cerebellar ataxia.

9 or the diagnosis and treatment of idiopathic cerebellar ataxia.

10 tibodies in non-paraneoplastic patients with cerebellar ataxia.

11 urkinje cell activity and to induce episodic cerebellar ataxia.

12 e PMCAs in a family with X-linked congenital cerebellar ataxia.

13 in 105 Chinese and 55 Japanese families with cerebellar ataxia.

14 ly to be a safer substitute for treatment of cerebellar ataxia.

15 ic transmission, and confer the phenotype of cerebellar ataxia.

16 disrupting their activity results in severe cerebellar ataxia.

17 ons in the P/Q-type VGCCs are known to cause cerebellar ataxia.

18 binol (Delta(9)-THC) produces dose-dependent cerebellar ataxia.

19 tnatal day 10, concomitant with the onset of cerebellar ataxia.

20 rrent density in Purkinje neurons also cause cerebellar ataxia.

21 ause hereditary spastic paraplegia (HSP) and cerebellar ataxia.

22 after a long illness characterized by severe cerebellar ataxia.

23 as a potentially treatable cause of sporadic cerebellar ataxia.

24 lar degeneration in patients with hereditary cerebellar ataxia.

25 sea and vomiting, peripheral neuropathy, and cerebellar ataxia.

26 ng that AOA in this family is a true primary cerebellar ataxia.

27 familial febrile convulsion and Cayman type cerebellar ataxia.

28 nism that responds poorly to levodopa and/or cerebellar ataxia.

29 A26), an autosomal dominant adult-onset pure cerebellar ataxia.

30 Alzheimer and Parkinson diseases, as well as cerebellar ataxia.

31 epsy and other neuronal disorders, including cerebellar ataxia.

32 hophysiology underlying motor rhythm loss in cerebellar ataxia.

33 rs with early-onset progressive dementia and cerebellar ataxia.

34 yndrome, Lowry-Wood syndrome and early-onset cerebellar ataxia.

35 poly(ADP-ribose) polymerase/s as a cause of cerebellar ataxia.

36 t cause of hereditary spastic paraplegia and cerebellar ataxia.

37 A RNU12 that was associated with early onset cerebellar ataxia.

38 th molecularly confirmed autosomal recessive cerebellar ataxia.

39 apraxia, axonal neuropathy, and progressive cerebellar ataxia.

40 e the causes of ataxia in 1500 patients with cerebellar ataxia.

41 inflammatory myelitis, postural tremor, and cerebellar ataxia.

42 se (MJD), the most common autosomal dominant cerebellar ataxia.

43 and outcomes among patients with autoimmune cerebellar ataxia.

44 g with motor symptoms of parkinsonism and/or cerebellar ataxia.

45 type 2 (AOA2) is a rare autosomal recessive cerebellar ataxia.

46 velopmental delay, generalized hypotonia and cerebellar ataxia.

47 ribed in one family with X-linked congenital cerebellar ataxia.

48 e genetics and clinical heterogeneity of the cerebellar ataxias.

49 o most frequent forms of autosomal recessive cerebellar ataxias.

50 for treating motor symptoms of degenerative cerebellar ataxias.

51 transplantation for counteracting the human cerebellar ataxias.

52 home balance training among individuals with cerebellar ataxias.

53 lbar deficits 0.91, 0.86-0.96, p=0.0012; and cerebellar ataxia 0.82, 0.74-0.91, p=0.0002).

54 elitis (12%), transverse myelitis (12%), and cerebellar ataxia (10%).

55 tions (5 brainstem or limbic encephalitis, 3 cerebellar ataxia, 2 Lambert-Eaton myasthenic syndrome,

56 l SYNE1 phenotype of mildly progressive pure cerebellar ataxia, 21/26 (81%) exhibited additional comp

57 europathy (47%), autonomic neuropathy (31%), cerebellar ataxia (26%), subacute dementia (25%), and ne

58 ubsequently expanded to the upper limbs, (2) cerebellar ataxia, (3) psychosis and/or severe mood diso

59 onset was earlier in multiple system atrophy-cerebellar ataxia (58.4 years) compared to multiple syst

60 Cerebellar ataxia, a devastating neurological disease, m

61 The stargazer (stg) mouse exhibits severe cerebellar ataxia, abnormal motor behavior, and absence

62 family with a new type of autosomal dominant cerebellar ataxia (ADCA) in which pure cerebellar ataxia

63 some 12q.89 families with autosomal dominant cerebellar ataxia (ADCA) types I, II and III, and 47 iso

64 belongs to the family of autosomal dominant cerebellar ataxias (ADCA), a genetically heterogeneous g

65 The autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetica

66 The dominant cerebellar ataxias (ADCAs) represent a clinically and ge

67 -parkinsonism versus multiple system atrophy-cerebellar ataxia), age of onset, gender, and early auto

68 , AND PARTICIPANTS: The Acetyl-DL-leucine on Cerebellar Ataxia (ALCAT) trial was an investigator-init

69 c atrophy, and relapsing encephalopathy with cerebellar ataxia (all ATP1A3).

70 memories, and locomotion in mouse models for cerebellar ataxia, Alzheimer's disease, and spinal cord

71 and nanopore sequencing in 169 patients with cerebellar ataxia and 802 controls, we compare FGF14 exp

72 Cerebellar ataxia and additional neurological signs and

73 esponsiveness and the presence or absence of cerebellar ataxia and autonomic symptoms were also recor

74 nnelopathy characterized by brief attacks of cerebellar ataxia and continuous interictal myokymia.

75 onism that is poorly responsive to levodopa, cerebellar ataxia and corticospinal dysfunction.

76 ein (Cacna2d2), the deletion of which causes cerebellar ataxia and epilepsy in mice and humans.

77 syndromes, including stiff-person syndrome, cerebellar ataxia and epilepsy.

78 nitis pigmentosa, peripheral polyneuropathy, cerebellar ataxia and increased cerebrospinal fluid prot

79 ntly been found to cause autosomal recessive cerebellar ataxia and intellectual disability syndrome i

80 WDR45, SNX14-associated autosomal-recessive cerebellar ataxia and intellectual disability syndrome,

81 cribed in this newly identified syndrome are cerebellar ataxia and intention tremor.

82 rituximab therapy who developed progressive cerebellar ataxia and marked isolated cerebellar degener

83 to early childhood onset of non-progressive cerebellar ataxia and mild anemia with hypochromia and m

84 decline resembling frontotemporal dementia, cerebellar ataxia and myopathy.

85 e expansion diseases and is characterized by cerebellar ataxia and neuronal degeneration in the cereb

86 y, facial dysmorphism, epilepsy, spasticity, cerebellar ataxia and nystagmus, sensorineural hearing l

87 ansient manifestations of pellagra (rashes), cerebellar ataxia and psychosis.

88 e, but not Spred1(M417Afs*4) mice, developed cerebellar ataxia and Purkinje cell loss with age.

89 failure, levodopa-unresponsive parkinsonism, cerebellar ataxia and pyramidal symptoms.

90 autosomal dominant disorder characterized by cerebellar ataxia and seizures.

91 Cerebellar ataxia and serum GAD65 antibody titre >500 nm

92 guineous Pakistani family who presented with cerebellar ataxia and severe myoclonus from adolescence.

93 Among 27 patients with cerebellar ataxia and SG diagnosed with coeliac disease

94 Among 38 patients with cerebellar ataxia and SG in which all other causes were

95 reviously described with autosomal recessive cerebellar ataxia and short stature of Norman type and l

96 a midlife-onset, slowly progressive type of cerebellar ataxia and spastic paraplegia, without intell

97 agle dog presented with progressive signs of cerebellar ataxia and the owner elected euthanasia.

98 , anti-Ma2 hypokinesis and rigidity, anti-Yo cerebellar ataxia and tremor, and anti-Hu ataxia and pes

99 ion in a patient with learning disabilities, cerebellar ataxia and white matter abnormalities on brai

100 th early-onset movement disorders comprising cerebellar ataxia and/or extrapyramidal symptoms.

101 n clinical features of this new syndrome are cerebellar ataxia and/or intention tremor, which were ch

102 Autosomal recessive cerebellar ataxias and autosomal recessive hereditary sp

103 function, and may be involved in hereditary cerebellar ataxias and epileptic disorders in humans.

104 to the subtype II of the autosomal dominant cerebellar ataxias and is characterized by early-onset c

105 of the literature on 67 autosomal recessive cerebellar ataxias and personal clinical experience.

106 thway for hereditary spastic paraplegias and cerebellar ataxias and thus prioritize this pathway for

107 ked in two different families to adult-onset cerebellar ataxia, and a de novo truncation mutation res

108 truncal instability, dysarthria, dysphagia, cerebellar ataxia, and cognitive deficits, often accompa

109 re were defined for each autosomal recessive cerebellar ataxia, and corresponding prediction scores w

110 de cardiac abnormalities, diabetes mellitus, cerebellar ataxia, and deafness.

111 mpairment, pseudobulbar features, as well as cerebellar ataxia, and neuropathologically by neuronal l

112 ion to various combinations of parkinsonism, cerebellar ataxia, and pyramidal dysfunction.

113 electrical alteration is sufficient to cause cerebellar ataxia, and SK openers such as the neuroprote

114 All patients present with non-progressive cerebellar ataxia, and the majority have intellectual di

115 Autosomal-recessive cerebellar ataxia (ARCA) comprises a large and heterogen

116 pastic paraplegia (HSP), autosomal-recessive cerebellar ataxia (ARCA), and the Marinesco-Sjogren-like

117 to cause a novel form of autosomal recessive cerebellar ataxia (ARCA).

118 The autosomal-recessive cerebellar ataxias (ARCA) are a clinically and genetical

119 Autosomal recessive cerebellar ataxias (ARCAs) represent over 200 clinically

120 Progressive limb spasticity and cerebellar ataxia are frequently found together in clini

121 Cerebellar ataxias are a diverse collection of neurologi

122 Hereditary autosomal-recessive cerebellar ataxias are a genetically and clinically hete

123 Adult-onset cerebellar ataxias are a group of neurodegenerative cond

124 Cerebellar ataxias are a group of progressive, debilitat

125 Non-progressive cerebellar ataxias are a rare group of disorders that co

126 em to ameliorate dysfunction associated with cerebellar ataxias are considered.

127 tive outcome measures for clinical trials on cerebellar ataxias are lacking.

128 Cerebellar ataxias are the result of diverse disease pro

129 The cerebellar ataxia, areflexia, pes cavus, optic atrophy,

130 P1A2/A3), rapid-onset dystonia-parkinsonism, cerebellar ataxia-areflexia-progressive optic atrophy, a

131 trols and were proportional to the degree of cerebellar ataxia assessed independently.

132 We report the second case of autoimmune cerebellar ataxia associated with Homer-3 antibodies.

133 Episodic ataxia type 2 (EA2) is a hereditary cerebellar ataxia associated with mutations in the P/Q-t

134 y identified as a form of autosomal dominant cerebellar ataxia associated with small expansions of th

135 ellar ataxia type 1 is an autosomal dominant cerebellar ataxia associated with the expansion of a pol

136 biquinone, and human ADCK3 mutations cause a cerebellar ataxia associated with ubiquinone deficiency,

137 utosomal recessive disorder characterized by cerebellar ataxia, believed to result from progressive n

138 ctice guidelines advise balance training for cerebellar ataxia, but little is known regarding high-in

139 nt features include pyramidal spasticity and cerebellar ataxia, but the underlying pathology and path

140 A as a candidate gene for autosomal dominant cerebellar ataxia by two independent approaches: linkage

141 For example, individuals with cerebellar ataxia (CA) produce atypically large compensa

142 urrent clinical and immunologic knowledge on cerebellar ataxia (CA) with glutamic acid decarboxylase

143 ifferential diagnosis of autosomal recessive cerebellar ataxias can be challenging.

144 ring, a mouse model for absence epilepsy and cerebellar ataxia, carries a mutation in the gene encodi

145 zygous moonwalker mice, which are a model of cerebellar ataxia, carry a dominant gain-of-function mut

146 cohort of hereditary spastic paraplegia and cerebellar ataxia cases (n = 618) for mutations in POLR3

147 taxia type 7 (SCA7) is an autosomal dominant cerebellar ataxia caused by a CAG repeat expansion in th

148 wk) mouse is a model of dominantly inherited cerebellar ataxia caused by a gain-of-function mutation

149 y and/or intellectual disability, hypotonia, cerebellar ataxia, cerebellar atrophy, and facial dysmor

150 Cerebellar ataxias currently lack a curative agent.

151 Degenerative cerebellar ataxias (DCAs) affect up to 1 in 5,000 people

152 oss type IE (HSAN IE) and autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN).

153 the mutations causal for autosomal dominant cerebellar ataxia, deafness and narcolepsy are located i

154 as an allelic disorder of autosomal dominant cerebellar ataxia, deafness and narcolepsy.

155 Many animal models of cerebellar ataxia display abnormalities in Ca(2)(+) chan

156 progressive dementia, altered behavior, and cerebellar ataxia dominated the clinical picture in the

157 gerer (sg) mice show a characteristic severe cerebellar ataxia due to a cell-autonomous defect in the

158 ned the LVOR in six patients with hereditary cerebellar ataxia due to mutations of the calcium channe

159 sing frequency): peripheral neuropathy, 53%; cerebellar ataxia, dysmetria, or dysarthria, 38%; and en

160 the age of 3 to 4 years and included chorea, cerebellar ataxia, dystonia, and pyramidal tract signs.

161 ted moderate-severe intellectual disability, cerebellar ataxia, early-onset cerebellar atrophy, senso

162 ur patients and two siblings presenting with cerebellar ataxia, epilepsy and muscle symptoms.

163 However, for cerebellar ataxia, epilepsy and other syndromes with dif

164 s Sirt1 dysfunction in SCA7, indicating that cerebellar ataxias exhibit altered calcium homeostasis b

165 ersus a blinded panel of autosomal recessive cerebellar ataxia experts.

166 ed as a frequent genetic cause of late-onset cerebellar ataxias, explaining <=30% of patients.

167 and seizures and later psychiatric symptoms, cerebellar ataxia, extrapyramidal signs, and extensive c

168 Individuals with cerebellar ataxia face significant challenges in control

169 4-0.51], GRADE=low), depression (GRADE=low), cerebellar ataxia (GRADE=low), and pain (GRADE=very low)

170 ing with developmental delay, hypotonia, and cerebellar ataxia harboring biallelic variants in the GE

171 dy type 1 (PCA-1, or anti-Yo) paraneoplastic cerebellar ataxia has a poor prognosis, yet little has b

172 Epidemiological data on hereditary cerebellar ataxia (HCA) and hereditary spastic paraplegi

173 ally related disorder, hereditary paroxysmal cerebellar ataxia (HPCA).

174 ia-telangiectasia (AT) include a progressive cerebellar ataxia, hypersensitivity to ionizing radiatio

175 ndrome, which is characterized by congenital cerebellar ataxia, hypotonia, oculomotor apraxia, and me

176 cts with MSAc, 11 with idiopathic late-onset cerebellar ataxia (ILOCA), 10 with familial ataxia, and

177 47 isolated cases with idiopathic late onset cerebellar ataxia (ILOCA), were analysed for this mutati

178 dent in 12 of 18 patients (66.7%), including cerebellar ataxia in 6 patients (33.3%).

179 ion t(8;20)(p12;q11.23), co-segregating with cerebellar ataxia in a five-generation family.

180 compared with 7.7 in those with progressive cerebellar ataxia in addition to episodic ataxia.

181 onset ataxia, but also in patients with mild cerebellar ataxia in adult life.

182 Similarities exist between the progressive cerebellar ataxia in ataxia telangiectasia (AT) patients

183 hality, developmental delay, and early-onset cerebellar ataxia in homozygous mice carrying the bi-all

184 omain caused a form of dominant non-episodic cerebellar ataxia in humans.

185 gene encoding P/Q-type Ca(2+) channels cause cerebellar ataxia in mice and humans, but the underlying

186 New onset or worsening of isolated cerebellar ataxia in patients being treated with rituxim

187 zin mutation results in absence epilepsy and cerebellar ataxia in stargazer (stg) mice.

188 se mutation in Scn8a that is associated with cerebellar ataxia in the jolting mutant, a mild allele o

189 17 patients from four families affected with cerebellar ataxia, including the large Lebanese family p

190 ities in Purkinje cell firing contributes to cerebellar ataxia induced by the S218L mutation and they

191 tion kindred of Norwegian ancestry with pure cerebellar ataxia inherited in an autosomal dominant pat

192 of aniridia characterized by non-progressive cerebellar ataxia, intellectual disability, and iris hyp

193 ciated tremor/ataxia syndrome typically have cerebellar ataxia, intranuclear inclusions in neurons an

194 We describe a family with severe progressive cerebellar ataxia involving the trunk, the extremities,

195 Cerebellar ataxia is a neurodegenerative disease impairi

196 t's total score for each autosomal recessive cerebellar ataxia is calculated, producing a ranking of

197 Cayman cerebellar ataxia is characterized by marked psychomotor

198 inant cerebellar ataxia (ADCA) in which pure cerebellar ataxia is often accompanied with epilepsy.

199 e unifying feature of many genes involved in cerebellar ataxias is their impact on the signaling prot

200 SCA), previously known as autosomal dominant cerebellar ataxia, is a biologically robust group of clo

201 ressive autonomic failure, parkinsonism, and cerebellar ataxia leading to significant disability.

202 e lacking COQ8A develop a slowly progressive cerebellar ataxia linked to Purkinje cell dysfunction an

203 or Friedreich's ataxia as well as late-onset cerebellar ataxias (LOCAs).

204 rs displayed autosomal recessively inherited cerebellar ataxia manifesting before 2 years of age.

205 show that the feedback gain in patients with cerebellar ataxia matches that of healthy subjects, but

206 mutations causing the neurological disorder cerebellar ataxia, mental retardation, and disequilibriu

207 364M, which causes the neurological disorder cerebellar ataxia, mental retardation, and disequilibriu

208 ive mutations in WDR81, previously linked to cerebellar ataxia, mental retardation, and disequilibriu

209 recently was found mutated in patients with cerebellar ataxia, mental retardation, and dysequilibriu

210 in a consanguineous family that suffers from cerebellar ataxia, mental retardation, and quadrupedal l

211 In addition to cerebellar ataxia, motor neuron disease is often seen in

212 included sensory/sensorimotor neuropathies, cerebellar ataxia, myelopathy, brain stem and limbic enc

213 pe 12, tremors caused by autosomal recessive cerebellar ataxias, myorhythmia, isolated tongue tremor,

214 /m2/d, consisting of reversible grade 2 to 3 cerebellar ataxia (n = 1) and confusion (n = 1).

215 opathy (n = 2), varied neuropathies (n = 4), cerebellar ataxia (n = 1), autoimmune retinopathy (n = 1

216 somal alpha-mannosidase and characterized by cerebellar ataxia, neurocognitive disability, facial and

217 1 (RFC1) was identified as a major cause of cerebellar ataxia, neuropathy (sensory ganglionopathy, o

218 The SCA2 phenotype is characterized by cerebellar ataxia, neuropathy and slow saccades.

219 Cerebellar ataxia, neuropathy and vestibular areflexia s

220 tential phenotypic overlap with RFC1-related cerebellar ataxia, neuropathy and vestibular areflexia s

221 Cerebellar ataxia, neuropathy and vestibular areflexia s

222 n RFC1, yet only certain repeat motifs cause cerebellar ataxia, neuropathy, and vestibular areflexia

223 tor complex subunit 1 (RFC1) as the cause of cerebellar ataxia, neuropathy, vestibular areflexia synd

224 rited, Friedreich ataxia and RFC1-associated cerebellar ataxia, neuropathy, vestibular areflexia synd

225 ment; when in combination, it is also termed cerebellar ataxia, neuropathy, vestibular areflexia synd

226 yndrome featuring childhood onset blindness, cerebellar ataxia, nystagmus, dorsal column dysfuction,

227 isorder characterized by growth retardation, cerebellar ataxia, oculocutaneous telangiectasias, and a

228 was different from stiff-person syndrome or cerebellar ataxia (odds ratio, 10.5; 95% CI, 3.2-34.5),

229 at age 1 year presented at age 7 years with cerebellar ataxia of subacute onset.

230 erential diagnosis of patients with subacute cerebellar ataxia of unknown cause.

231 s families of Tunisian decent diagnosed with cerebellar ataxia of unknown origin.

232 d individuals developed signs of progressive cerebellar ataxia of variable severity late in the cours

233 ommon cause of neurologic syndromes (notably cerebellar ataxia) of otherwise unknown cause.

234 sease of late onset with variable degrees of cerebellar ataxia, ophthalmoplegia and neuropathy.

235 ssive dementia, and the other 2 patients had cerebellar ataxia or seizures that were initially consid

236 toms of autonomic failure plus parkinsonism, cerebellar ataxia, or both.

237 yasthenic syndrome (LEMS) and paraneoplastic cerebellar ataxia (PCA).

238 urologic and psychiatric disorders including cerebellar ataxia, peripheral neuropathy, epilepsy, deme

239 als from 10 unrelated families all sharing a cerebellar ataxia phenotype.

240 yneuropathy, 43% (9/21) in the subgroup with cerebellar ataxia plus BVP and 27% (3/11) in patients wi

241 tire cohort, 38% (5/13) in the subgroup with cerebellar ataxia plus polyneuropathy, 43% (9/21) in the

242 Most cerebellar ataxias progress very slowly and quantitative

243 es of ADCA-DN, including PDGFB and PRDM8 for cerebellar ataxia, psychosis and dementia and NR2F1 for

244 a slow-progressing syndrome characterized by cerebellar ataxia, psychotic episodes, and obsessive beh

245 ated (P161L, R194W, R280H, R399Q, Y576S) and cerebellar ataxia-related (K431N) XRCC1 variants.

246 s such as hereditary spastic paraplegias and cerebellar ataxias remain genetically unexplained, impli

247 axia type 4 (SCA4), a late-onset sensory and cerebellar ataxia, remained unknown.

248 Cerebellar ataxias represent a heterogeneous group of di

249 Cerebellar ataxias represent a spectrum of disorders whi

250 Cerebellar ataxia results from various genetic and nonge

251 ssociated with polyneuropathy, hearing loss, cerebellar ataxia, RP, and early-onset cataract (PHARC)

252 ease including polyneuropathy, hearing loss, cerebellar ataxia, RP, and early-onset cataract.

253 nd PallidoLuysian Atrophy (DRPLA), and Spino-Cerebellar Ataxia (SCA), have been controversial.

254 , an ER-resident protein associated with the cerebellar ataxia SCAR20, localizes to ER-LD contacts fo

255 on's disease (PD), prion disease, the spinal cerebellar ataxias (SCAs), and Alzheimer's disease (AD).

256 th many diseases, including several forms of cerebellar ataxia, since normal cerebellar function is p

257 Here, we identify the cerebellar ataxia spinocerebellar ataxia, autosomal rece

258 ual disability, and many individuals exhibit cerebellar ataxia, subtle facial dysmorphism, strabismus

259 ther the parkinsonism subtype (MSA-P) or the cerebellar ataxia subtype (MSA-C)-at 12 neurology centre

260 We propose that advances in the genetics of cerebellar ataxias suggest a rational hypothesis for how

261 axia telangiectasia (AT) is characterized by cerebellar ataxia, telangiectasia, immunodeficiency, and

262 lomotor apraxia syndrome 1 is an early onset cerebellar ataxia that results from loss of function mut

263 We evaluated two scales for rating cerebellar ataxias: the Composite Cerebellar Functional

264 g molecular diagnoses of autosomal recessive cerebellar ataxias, thereby guiding targeted sequencing

265 evance to other types of autosomal recessive cerebellar ataxias to be determined.

266 In a mouse model of human spino-cerebellar ataxia type 1 (early SCA1, 12 weeks) we find

267 and spectrin associated autosomal recessive cerebellar ataxia type 1 are human neurodegenerative dis

268 and spectrin-associated autosomal recessive cerebellar ataxia Type 1 pathology likely arises from po

269 and spectrin-associated autosomal recessive cerebellar ataxia Type 1, but molecular mechanisms linki

270 ggest naming this entity autosomal recessive cerebellar ataxia type 3 (ARCA3).

271 Autosomal recessive cerebellar ataxia type I, also known as recessive ataxia

272 asis of core features of autosomal recessive cerebellar ataxia type I.

273 and spectrin-associated autosomal recessive cerebellar ataxia type-1 (SPARCA1) are mirrored in mice

274 A total of 114 individuals with various cerebellar ataxia types were approached: 52 individuals

275 Individuals with various cerebellar ataxia types were eligible for inclusion.

276 ncytopenia (AP) syndrome is characterized by cerebellar ataxia, variable hematologic cytopenias, and

277 A non-progressive recessive cerebellar ataxia was identified in a highly inbred Caym

278 Hereditary cerebellar ataxia was more prevalent (prevalence, 8.9 pe

279 rt of 448 unrelated probands presenting with cerebellar ataxia, we identified ultra-rare TUBA4A misse

280 by minor head trauma, and slowly progressive cerebellar ataxia) were present in various combinations.

281 minant parkinsonism and MSA with predominant cerebellar ataxia, which generally correlate with striat

282 YNE1 should be investigated in families with cerebellar ataxia who live outside the FC region.

283 LA) genotypes in 50 patients presenting with cerebellar ataxia who were tested for molecularly charac

284 arge pedigree and a case report of 'familial cerebellar ataxia with amyloid angiopathy'.

285 , in a child with congenital and progressive cerebellar ataxia with cognitive impairment.

286 pe 1 and 7 (SCA1 and SCA7) patients manifest cerebellar ataxia with degeneration of Purkinje cells.

287 ler-Scheinker syndrome, a slowly progressive cerebellar ataxia with later onset cognitive impairment,

288 rom 22 families with a clinical diagnosis of cerebellar ataxia with neuropathy and bilateral vestibul

289 Cerebellar ataxia with neuropathy and bilateral vestibul

290 Cerebellar ataxia with neuropathy and vestibular areflex

291 mentia, progressive spastic tetraparesis and cerebellar ataxia with onset in the sixth decade.

292 y of the clinical manifestations of dominant cerebellar ataxia with pigmentary macular dystrophy, a r

293 A-FGF14-related disease is a common cause of cerebellar ataxia with polyneuropathy and/or BVP, and sh

294 y the cause of the combination of idiopathic cerebellar ataxia with SG.

295 duals had an adult-onset, slowly progressive cerebellar ataxia with variable features including vesti

296 pical presentation consists of a progressive cerebellar ataxia, with a variable age at onset and rate

297 cted family members had a slowly progressive cerebellar ataxia, with an age of onset range from 26 to

298 ented as variable multisystemic, early-onset cerebellar ataxia, with complicating features ranging fr

299 zed by progressive dementia, spasticity, and cerebellar ataxia, with onset at around the fifth decade

300 Isolated cerebellar ataxia without SG makes the diagnosis of CANV

301 cted with X-linked sideroblastic anemia with cerebellar ataxia (XLSA/A).