ライフサイエンスコーパス: spinocerebellar

1 nd Rating of Ataxia (SARA), in patients with spinocerebellar ataxia (SCA) and controls.

2 l identity to the 5' and 3'UTRs of the polyQ spinocerebellar ataxia (SCA) genes ATXN1, ATXN2, ATXN3,

3 Spinocerebellar ataxia (SCA) in the Parson Russell Terri

4 Spinocerebellar ataxia (SCA), previously known as autoso

5 y and characterize the different subtypes of spinocerebellar ataxia (SCA).

6 owth factor 14 (iFGF14), have been linked to spinocerebellar ataxia (SCA27).

7 mic reticulum lipid scramblase causative for spinocerebellar ataxia (SCAR10), is an interorganelle re

8 MNAT overexpression can also protect against spinocerebellar ataxia 1 (SCA1)-induced neurodegeneratio

9 lutamine (polyQ) disease in a mouse model of spinocerebellar ataxia 1 (SCA1).

10 All cases had been tested for spinocerebellar ataxia 1-3, 6, 7 and Friedrich's ataxia

11 divergent neuroprotective capacities against spinocerebellar ataxia 1-induced neurodegeneration.

12 Spinocerebellar ataxia 10 (SCA10) is an autosomal domina

13 The neurodegenerative disorder spinocerebellar ataxia 12 (SCA12) is caused by CAG repea

14 which encodes the Kv3.3 K(+) channel, cause spinocerebellar ataxia 13 (SCA13).

15 s gene have been linked to the human disease spinocerebellar ataxia 13, associated with cerebellar an

16 have recently been linked to human disease, spinocerebellar ataxia 13, with cerebellar and extracere

17 Spinocerebellar ataxia 17 (SCA17) is an autosomal-domina

18 We established spinocerebellar ataxia 17 (SCA17) knockin mice that indu

19 ly implicated HSP27 as a genetic modifier of spinocerebellar ataxia 17 (SCA17), a neurological diseas

20 n (TBP) causes the neurodegenerative disease spinocerebellar ataxia 17 (SCA17).

21 To investigate the pathogenesis of spinocerebellar ataxia 17, we generated a conditional kn

22 Spinocerebellar ataxia 2 (SCA2) is a neurodegenerative d

23 ons are associated with a different disease, spinocerebellar ataxia 2, these findings help explain ho

24 Nav1.6 channel complex, a causative link to spinocerebellar ataxia 27 (SCA27) and an emerging risk f

25 Spinocerebellar ataxia 3 (SCA3) is the most common autos

26 ) explore the toxicity of RAN translation in spinocerebellar ataxia 31.

27 Spinocerebellar ataxia 38 (SCA38) is caused by mutations

28 ternative to allele-specific silencing using spinocerebellar ataxia 7 (SCA7) as a model.

29 s in development and is deregulated in human spinocerebellar ataxia and cancers.

30 es, including amyotrophic lateral sclerosis, spinocerebellar ataxia and Huntington's disease, is that

31 MARCKS, and the established role of PKCs in spinocerebellar ataxia and in shaping the actin cytoskel

32 Its human ortholog is linked to type 2 spinocerebellar ataxia and other complex neuronal disord

33 analysis of the canine orthologues of human spinocerebellar ataxia associated genes, we identified a

34 type 1 (AOA1) is an early onset progressive spinocerebellar ataxia caused by mutation in aprataxin (

35 he Inventory of Non-Ataxia Signs (INAS), the Spinocerebellar Ataxia Functional Index (SCAFI), phonemi

36 AS), the performance-based coordination test Spinocerebellar Ataxia Functional Index (SCAFI), the neu

37 r a physiological mechanism underlying human spinocerebellar ataxia induced by Fhf4 mutation and sugg

38 Since spinocerebellar ataxia is associated with mutations in h

39 with affected dogs presenting with symmetric spinocerebellar ataxia particularly evident in the pelvi

40 are clinically indistinguishable from other spinocerebellar ataxia patients.

41 ily presenting with cognitive impairment and spinocerebellar ataxia suggest links between FGF14 and n

42 Spinocerebellar ataxia syndromes presenting in adulthood

43 Spinocerebellar Ataxia type 1 (SCA1) and Huntington's di

44 ing example of this mutant and WT duality is spinocerebellar ataxia type 1 (SCA1) caused by an ATXN1

45 Spinocerebellar ataxia type 1 (SCA1) is a dominantly inh

46 Spinocerebellar ataxia type 1 (SCA1) is a dominantly inh

47 Spinocerebellar ataxia type 1 (SCA1) is a fatal neurodeg

48 Spinocerebellar ataxia type 1 (SCA1) is a fatal neurodeg

49 Spinocerebellar ataxia type 1 (SCA1) is a lethal neurode

50 Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerat

51 Spinocerebellar ataxia type 1 (SCA1) is a paradigmatic n

52 Spinocerebellar ataxia type 1 (SCA1) is an adult-onset,

53 Spinocerebellar ataxia type 1 (SCA1) is an incurable neu

54 Spinocerebellar ataxia type 1 (SCA1) is one of nine domi

55 Spinocerebellar ataxia type 1 (SCA1) is one of nine inhe

56 ional expansion of CAG repeats at the murine spinocerebellar ataxia type 1 (Sca1) locus.

57 Expressing pathogenic spinocerebellar ataxia type 1 (SCA1) or type 3 (SCA3) pr

58 nt studies with a conditional mouse model of spinocerebellar ataxia type 1 (SCA1) suggest that neuron

59 tamine stretches cause the movement disorder spinocerebellar ataxia type 1 (SCA1) through a toxic gai

60 key molecule modulating disease toxicity in spinocerebellar ataxia type 1 (SCA1), a disease caused b

61 ell-based and Drosophila genetic screens, to spinocerebellar ataxia type 1 (SCA1), a disease caused b

62 protein of unknown function associated with spinocerebellar ataxia type 1 (SCA1), a neurodegenerativ

63 of CAG trinucleotide repeats in ATXN1 causes spinocerebellar ataxia type 1 (SCA1), a neurodegenerativ

64 ), is suppressed to abnormally low levels in spinocerebellar ataxia type 1 (SCA1), and that replenish

65 Using the ATXN1[82Q] model of spinocerebellar ataxia type 1 (SCA1), we explored the hy

66 However, in a mouse model of spinocerebellar ataxia type 1 (SCA1), we identify a prev

67 a mouse model of the polyglutamine disorder spinocerebellar ataxia type 1 (SCA1), we tested the hypo

68 eliminates NER, into the TNR mouse model for spinocerebellar ataxia type 1 (SCA1), which carries an e

69 ogically distinct repeat expansion disorder, spinocerebellar ataxia type 1 (SCA1).

70 he protein responsible for neurodegenerative spinocerebellar ataxia type 1 (SCA1).

71 rm of ataxin-1 drives disease progression in spinocerebellar ataxia type 1 (SCA1).

72 ne involved in the neurodegenerative disease spinocerebellar ataxia type 1 (SCA1).

73 ATXN1 mRNA (rAAV.miS1), to a mouse model of spinocerebellar ataxia type 1 (SCA1; B05 mice).

74 In particular, spinocerebellar ataxia type 1 and 7 (SCA1 and SCA7) pati

75 (CIC) has been implicated in pathogenesis of spinocerebellar ataxia type 1 and cancer in mammals; how

76 Spinocerebellar ataxia type 1 is an autosomal dominant c

77 Spinocerebellar ataxia type 1 is an autosomal dominant f

78 Spinocerebellar ataxia type 1 is caused by expansion of

79 Spinocerebellar ataxia type 1 is one of nine polyglutami

80 Ataxin-1 is a human protein responsible for spinocerebellar ataxia type 1, a hereditary disease asso

81 Except for individuals with spinocerebellar ataxia type 1, age at onset was also inf

82 xpanded ATAXIN-1, the protein that underlies spinocerebellar ataxia type 1, forms toxic oligomers and

83 n the early stages of a mouse model of human spinocerebellar ataxia type 1, SCA1, where mice exhibit

84 ion of CAG repeats in ATAXIN1 (ATXN1) causes Spinocerebellar ataxia type 1, the functions of ATXN1 an

85 as been indicated to be the disease gene for spinocerebellar ataxia type 1, which is also a neurodege

86 omers are the primary drivers of toxicity in Spinocerebellar ataxia type 1.

87 d are supportive of clinical application for spinocerebellar ataxia type 1.

88 elated progressive neurodegeneration seen in spinocerebellar ataxia type 1.

89 l to decipher the pathogenesis mechanisms in spinocerebellar ataxia type 1.

90 ct in Ataxin-1 causes the autosomal dominant spinocerebellar ataxia type 1.

91 RNA, expanded r(AUUCU) repeats, that causes spinocerebellar ataxia type 10 (SCA10) in patient-derive

92 Spinocerebellar ataxia type 10 (SCA10) is associated wit

93 he neurological disorder autosomal recessive spinocerebellar ataxia type 10 (SCAR10), its location in

94 in a hereditary neurodegenerative disorder, spinocerebellar ataxia type 11 (SCA11).

95 nt truncating mutations in human TTBK2 cause spinocerebellar ataxia type 11 (SCA11); these mutant pro

96 in kinase-2 (TTBK2) is genetically linked to spinocerebellar ataxia type 11, and its kinase activity

97 tau tubulin kinase 2 (TTBK2) as the cause of spinocerebellar ataxia type 11.

98 fragile X-associated tremor/ataxia syndrome, spinocerebellar ataxia type 12, tremors caused by autoso

99 Spinocerebellar ataxia type 13 (SCA13) patients carrying

100 n the Kv3.3 voltage-gated K(+) channel cause spinocerebellar ataxia type 13 (SCA13), a human autosoma

101 Mutations in Kv3.3 cause spinocerebellar ataxia type 13 (SCA13).

102 in a unique neurodegenerative disease termed spinocerebellar ataxia type 13 (SCA13).

103 Spinocerebellar ataxia type 13 is a rare autosomal-domin

104 ase mutated in the neurodegenerative disease spinocerebellar ataxia type 14 (SCA14), as a novel amylo

105 Spinocerebellar ataxia type 17 (SCA17) is a rare autosom

106 omain to >42 glutamines typically results in spinocerebellar ataxia type 17 (SCA17), a neurodegenerat

107 region, and expansion of this tract leads to spinocerebellar ataxia type 17 (SCA17), one of nine domi

108 f nine neurodegenerative disorders including spinocerebellar ataxia type 17 that is caused by a polyg

109 The spinocerebellar ataxia type 2 (SCA2) gene ATXN2 has a pr

110 Spinocerebellar ataxia type 2 (SCA2) is an autosomal dom

111 Spinocerebellar ataxia type 2 (SCA2) is an autosomal dom

112 Spinocerebellar ataxia type 2 (SCA2) is an autosomal dom

113 Spinocerebellar ataxia type 2 (SCA2) is an autosomal dom

114 We find in a spinocerebellar ataxia type 2 (SCA2) mouse model that ca

115 In a mouse model of spinocerebellar ataxia type 2 (SCA2), a progressive redu

116 epeats of the ataxin-2 (ATXN2) protein cause spinocerebellar ataxia type 2 (SCA2), a rare neurodegene

117 NA-targeted therapies in two mouse models of spinocerebellar ataxia type 2 (SCA2), an autosomal domin

118 However, no coexistence of spinocerebellar ataxia type 2 and ALS in a family has be

119 A family with coexistence of spinocerebellar ataxia type 2 and amyotrophic lateral sc

120 A clinician should consider the diagnosis of spinocerebellar ataxia type 2 when encountering a patien

121 as mitochondrial ataxia, Friedreich ataxia, spinocerebellar ataxia type 2, ataxia telangiectasia, sp

122 , a polyglutamine (polyQ) protein mutated in spinocerebellar ataxia type 2, is a potent modifier of T

123 d; likewise, TDP-43 shows mislocalization in spinocerebellar ataxia type 2.

124 Spinocerebellar ataxia type 20 (SCA20) has been linked t

125 Spinocerebellar ataxia type 23 (SCA23) is caused by miss

126 YN(R212W) mouse is the first animal model of spinocerebellar ataxia type 23 and our work indicates th

127 To further test this and study spinocerebellar ataxia type 23 in more detail, we genera

128 Spinocerebellar ataxia type 23 is caused by mutations in

129 re detail, we generated a mouse carrying the spinocerebellar ataxia type 23 mutation R212W in PDYN.

130 norphin A is likely a mutational hotspot for spinocerebellar ataxia type 23 mutations, and in vitro d

131 reproduced many of the clinical features of spinocerebellar ataxia type 23, with gait deficits start

132 s play a crucial role in the pathogenesis of spinocerebellar ataxia type 23.

133 Spinocerebellar ataxia type 28 (SCA28) is a neurodegener

134 tions in the AFG3L2 gene have been linked to spinocerebellar ataxia type 28 and spastic ataxia-neurop

135 rotease--previously associated with dominant spinocerebellar ataxia type 28 disease--in a patient wit

136 d by other (CAG)n-containing genes: ATXN7 in spinocerebellar ataxia type 2; ATXN2, ATN1 and HTT in sp

137 = 12, age range 21-55 years, seven female), spinocerebellar ataxia type 3 (n = 10, age range 34-67 y

138 he CAG repeats of ATXN3 for 20 patients with spinocerebellar ataxia type 3 (SCA3) and 5 unaffected in

139 ogenic ataxin-3 protein of the human disease spinocerebellar ataxia type 3 (SCA3) and the yeast prion

140 Spinocerebellar ataxia type 3 (SCA3) belongs to the fami

141 Spinocerebellar ataxia type 3 (SCA3) is a dominantly inh

142 Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerat

143 difiers of polyQ degeneration induced by the spinocerebellar ataxia type 3 (SCA3) protein ataxin-3, w

144 Spinocerebellar ataxia type 3 (SCA3), also known as Mach

145 Polyglutamine diseases, including spinocerebellar ataxia type 3 (SCA3), are caused by CAG

146 itinase ataxin-3 causes neurodegeneration in Spinocerebellar Ataxia Type 3 (SCA3), one of nine inheri

147 ataxias, including the polyglutamine disease spinocerebellar ataxia type 3 (SCA3), remains poorly und

148 ouse models of Huntington's disease (HD) and spinocerebellar ataxia type 3 (SCA3), respectively.

149 neration in the most common dominant ataxia, spinocerebellar ataxia type 3 (SCA3).

150 gtin in Huntington's disease and ataxin 3 in spinocerebellar ataxia type 3 (SCA3).

151 Spinocerebellar ataxia type 3 (SCA3)/Machado Joseph dise

152 Spinocerebellar ataxia type 3 is a neurodegenerative dis

153 Machado-Joseph disease or spinocerebellar ataxia type 3 is an inherited neurodegen

154 ed that pathology in Friedreich's ataxia and spinocerebellar ataxia type 3 is not restricted to the c

155 Spinocerebellar ataxia type 3 is one of the polyglutamin

156 el for the CAG/polyglutamine (polyQ) disease spinocerebellar ataxia type 3 recapitulates key features

157 riptional alterations in the pathogenesis of spinocerebellar ataxia type 3 remains unclear.

158 Machado-Joseph disease (spinocerebellar ataxia type 3) (prevalence, 3.1 per 100,

159 gh, particularly for Machado-Joseph disease (spinocerebellar ataxia type 3).

160 Ataxin-3, the protein responsible for Spinocerebellar ataxia type 3, a polyglutamine expansion

161 show that ataxin-3, the protein involved in spinocerebellar ataxia type 3, also known as Machado-Jos

162 uitinating enzyme, is the disease protein in spinocerebellar ataxia type 3, one of many neurodegenera

163 Spinocerebellar ataxia type 3, spinocerebellar ataxia ty

164 phy of the nuclei in Friedreich's ataxia and spinocerebellar ataxia type 3.

165 The difference missed significance in spinocerebellar ataxia type 3.

166 in Friedreich's ataxia, and mildy reduced in spinocerebellar ataxia type 3.

167 he polyglutamine neurodegenerative disorder, Spinocerebellar Ataxia Type 3.

168 essed in myotonic dystrophy type 1 (DM1) and spinocerebellar ataxia type 3.

169 le therapeutic strategy for the treatment of spinocerebellar ataxia type 3.

170 r performance in a transgenic mouse model of spinocerebellar ataxia type 3.

171 at might be important in the pathogenesis of spinocerebellar ataxia type 3.

172 ase known both as Machado-Joseph disease and spinocerebellar ataxia type 3.

173 lei in patients with Friedreich's ataxia and spinocerebellar ataxia type 3.

174 In spinocerebellar ataxia type 3/Machado-Joseph disease (SC

175 ed UGGAA (UGGAAexp) repeats, responsible for spinocerebellar ataxia type 31 (SCA31) in Drosophila, ca

176 Spinocerebellar ataxia type 35 (SCA35) is a rare autosom

177 the similar intronic GGCCTG HREs that causes spinocerebellar ataxia type 36 (SCA36) is also translate

178 bellar ataxia type 2; ATXN2, ATN1 and HTT in spinocerebellar ataxia type 3; ATXN1 and ATXN3 in spinoc

179 Spinocerebellar ataxia type 5 (SCA5) and spectrin associ

180 -III-spectrin ABD mutation (L253P) linked to spinocerebellar ataxia type 5 (SCA5) causes a dramatic i

181 Spinocerebellar ataxia type 5 (SCA5) is a neurodegenerat

182 Spinocerebellar ataxia type 5 (SCA5) is an autosomal dom

183 Spinocerebellar ataxia type 5 (SCA5) is an autosomal dom

184 A spinocerebellar ataxia type 5 (SCA5) L253P mutation in t

185 Spinocerebellar ataxia type 5 (SCA5), a dominant neurode

186 s in betaIII spectrin link strongly to human spinocerebellar ataxia type 5 (SCA5), correlating with a

187 Our data suggest that spinocerebellar ataxia Type 5 and spectrin-associated au

188 gene encoding beta-III spectrin give rise to spinocerebellar ataxia type 5, a neurodegenerative disea

189 associated with neurodegenerative syndromes, spinocerebellar ataxia Type 5, and spectrin-associated a

190 hy of the cerebellar nuclei in patients with spinocerebellar ataxia type 6 (n = 12, age range 41-76 y

191 Spinocerebellar ataxia type 6 (SCA6) belongs to the fami

192 Spinocerebellar ataxia type 6 (SCA6) is linked to poly-g

193 d at the pre-clinical and clinical stages of spinocerebellar ataxia type 6 (SCA6), an inherited neuro

194 In spinocerebellar ataxia type 6 (SCA6), there is evidence

195 d into a polyglutamine tract associated with spinocerebellar ataxia type 6 (SCA6), whereas MPc splice

196 ne (polyQ) tract that, when expanded, causes spinocerebellar ataxia type 6 (SCA6).

197 Spinocerebellar ataxia type 3, spinocerebellar ataxia type 6 and Friedreich's ataxia ar

198 imaging signal was significantly reduced in spinocerebellar ataxia type 6 and Friedreich's ataxia co

199 , reductions were significant when comparing spinocerebellar ataxia type 6 and Friedreich's ataxia to

200 current work, we show that in a subgroup of spinocerebellar ataxia type 6 individuals, temporal vari

201 ei have long been thought to be preserved in spinocerebellar ataxia type 6, histology shows marked at

202 In spinocerebellar ataxia type 6, pathology was not restric

203 me of the cerebellum was markedly reduced in spinocerebellar ataxia type 6, preserved in Friedreich's

204 the cerebellar nuclei was most pronounced in spinocerebellar ataxia type 6.

205 cerebellar ataxia type 3; ATXN1 and ATXN3 in spinocerebellar ataxia type 6; and ATXN3 and TBP in spin

206 Spinocerebellar ataxia type 7 (SCA7) is a debilitating n

207 Spinocerebellar ataxia type 7 (SCA7) is a dominantly inh

208 Spinocerebellar ataxia type 7 (SCA7) is a dominantly inh

209 Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerat

210 Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerat

211 Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerat

212 Spinocerebellar ataxia type 7 (SCA7) is a polyglutamine

213 Spinocerebellar ataxia type 7 (SCA7) is an autosomal-dom

214 Spinocerebellar ataxia type 7 (SCA7) is an inherited CAG

215 The neurodegenerative disorder spinocerebellar ataxia type 7 (SCA7) is caused by a poly

216 ine expansion at the amino terminus, causing spinocerebellar ataxia type 7 (SCA7), a progressive reti

217 to date of maternally transmitted infantile spinocerebellar ataxia type 7 (SCA7), in which a tract o

218 plexes, causes the neurodegenerative disease spinocerebellar ataxia type 7 (SCA7).

219 man polyglutamine neurodegenerative disorder spinocerebellar ataxia type 7 (SCA7).

220 rebellar ataxia type 6; and ATXN3 and TBP in spinocerebellar ataxia type 7.

221 y, we show that RAN translation across human spinocerebellar ataxia type 8 (SCA8) and myotonic dystro

222 ng fragile X tremor ataxia syndrome (FXTAS), spinocerebellar ataxia type 8 (SCA8), SCA10, SCA12, and

223 ataxia syndrome, myotonic dystrophy type 1, spinocerebellar ataxia type 8, and the nine polyglutamin

224 polyglutamine protein whose expansion causes spinocerebellar ataxia type-1 (SCA1) and triggers the fo

225 ve disorder protein whose mutant form causes spinocerebellar ataxia type-1 (SCA1).

226 expanded polyglutamine (polyQ) repeat causes spinocerebellar ataxia type-3 (SCA3), also called Machad

227 Clinical phenotypes of spinocerebellar ataxia type-5 (SCA5) and spectrin-associ

228 cted individuals with identified expansions (spinocerebellar ataxia types 1, 2, 3, 6 and 7), recruite

229 ciation between age at onset and CAG size in spinocerebellar ataxia types 1, 3 and 6.

230 normal alleles in trans in individuals with spinocerebellar ataxia types 1, 6 and 7.

231 syl-DNA phosphodiesterase 1 (TDP1) can cause spinocerebellar ataxia with axonal neuropathy (SCAN1), a

232 contributes to the neurodegenerative disease spinocerebellar ataxia with axonal neuropathy (SCAN1).

233 ataxia with oculomotor apraxia 1 (AOA1) and spinocerebellar ataxia with axonal neuropathy 1 (SCAN1).

234 n murine models of ataxia telangiectasia and spinocerebellar ataxia with axonal neuropathy 1.

235 gical diseases: ataxia oculomotor apraxia 1, spinocerebellar ataxia with neuronal neuropathy 1 and mi

236 vant to understanding diseases (for example, spinocerebellar ataxia, amyotrophic lateral sclerosis an

237 human neurodegenerative diseases, including spinocerebellar ataxia, amyotrophic lateral sclerosis, a

238 eurological diseases, including Alzheimer's, spinocerebellar ataxia, and several motor neuron disease

239 a critical role for opioid neuropeptides in spinocerebellar ataxia, and suggests that restoring the

240 es, are associated with Alzheimer's disease, spinocerebellar ataxia, and systemic lupus erythematosus

241 Mutations in the SNX14 gene cause spinocerebellar ataxia, autosomal recessive 20 (SCAR20)

242 Here, we identify the cerebellar ataxia spinocerebellar ataxia, autosomal recessive 20 (SCAR20)-

243 eting mutations in human TTBK2 are linked to spinocerebellar ataxia, suggesting cilia protect from ne

244 In spinocerebellar ataxia, the brain and retina undergo deg

245 Josephin domain of ataxin-3 is implicated in spinocerebellar ataxia-3.

246 predicted loss of TG6 crosslinking leads to spinocerebellar ataxia-35; and loss of the structural er

247 ble neurological disorder autosomal dominant spinocerebellar ataxia.

248 tDNA depletion syndrome, and infantile-onset spinocerebellar ataxia.

249 n amyotrophic lateral sclerosis; ataxin-2 in spinocerebellar ataxia; and SMN (survival of motor neuro

250 The autosomal dominant spinocerebellar ataxias (SCAs) are a complex group of ne

251 The autosomal dominant spinocerebellar ataxias (SCAs) are a genetically heterog

252 The spinocerebellar ataxias (SCAs) are a genetically heterog

253 Spinocerebellar ataxias (SCAs) are a genetically heterog

254 Spinocerebellar ataxias (SCAs) are a heterogeneous group

255 The spinocerebellar ataxias (SCAs) are a phenotypically and

256 The autosomal dominant spinocerebellar ataxias (SCAs) are caused by a variety o

257 thological feature of the autosomal dominant spinocerebellar ataxias (SCAs) is cerebellar degeneratio

258 uding Huntington's disease (HD) and multiple spinocerebellar ataxias (SCAs), are among the commonest

259 are primarily affected in neurodegenerative spinocerebellar ataxias (SCAs).

260 Spinocerebellar ataxias 17 (SCA17) is caused by polyglut

261 Spinocerebellar ataxias 6 and 7 (SCA6 and SCA7) are neur

262 The spinocerebellar ataxias are a genetically heterogeneous

263 Spinocerebellar ataxias are dominantly inherited neurode

264 e data on the progression of the most common spinocerebellar ataxias based on a follow-up period that

265 the hereditary ataxias, autosomal recessive spinocerebellar ataxias comprise a diverse group of neur

266 nit FGF14 'b' isoform, a locus for inherited spinocerebellar ataxias, controls resurgent current and

267 uding HDL1-3, SCA17, familial prion disease, spinocerebellar ataxias, dentatorubral-pallidoluysian at

268 approaches for Huntington's disease and the spinocerebellar ataxias, including the use of antisense

269 Similar findings were seen in the spinocerebellar ataxias, indicating an association betwe

270 recruited through the European Consortium on Spinocerebellar Ataxias, to determine whether age at ons

271 XRCC1 with proteins causally linked to human spinocerebellar ataxias-aprataxin and tyrosyl-DNA phosph

272 at expansions in seven different genes cause spinocerebellar ataxias.

273 atorubral-pallidoluysian atrophy and several spinocerebellar ataxias.

274 as Huntington disease, Kennedy disease, and spinocerebellar ataxias.

275 human diseases like Huntington's disease and spinocerebellar ataxias.

276 -term disease progression of the most common spinocerebellar ataxias: SCA1, SCA2, SCA3, and SCA6.

277 Machado-Joseph disease (MJD), also known as spinocerebellar ataxin-3, affects neurons of the brain a

278 aled nonprogressive white matter lesions and spinocerebellar atrophy similar to typical adult polyglu

279 Clinically, patients suffer from progressive spinocerebellar degeneration, diabetes and a fatal cardi

280 TTBK2 is important in the tau cascade and in spinocerebellar degeneration.

281 We studied this in the vermis of the spinocerebellar lobule V and the vestibulocerebellar lob

282 bserved CART expression in loose clusters of spinocerebellar mossy fibers in the mouse AZ/PZ, whereas

283 s considered to be a prime factor in several spinocerebellar neurodegenerative diseases; however, the

284 s of excitatory input to four populations of spinocerebellar neurons in the thoraco-lumbar spinal cor

285 ogical results indicate that Clarke's column spinocerebellar neurons nucleate local spinal corollary

286 We explored the possibility that spinocerebellar neurons that convey proprioceptive senso

287 ryos, and that these axons contribute to the spinocerebellar projection in transgenic reporter mice.

288 oncomitant abnormalities in the execution of spinocerebellar reflexes, which were significantly slowe

289 matosensory (lemniscal), and proprioceptive (spinocerebellar) systems.

290 and in the dorsal horn (dhDSCT) and ventral spinocerebellar tract (VSCT) neurons including spinal bo

291 l cell bodies including those of the ventral spinocerebellar tract (VSCT), a tract previously shown t

292 ircuitry and physiology of identified dorsal spinocerebellar tract neurons in mouse spinal cord revea

293 ns in the thoraco-lumbar spinal cord: dorsal spinocerebellar tract neurons located in Clarke's column

294 the hindlimbs through several populations of spinocerebellar tract neurons.

295 e formation of the lateral funiculus and the spinocerebellar tract, and simultaneously perturbing Rob

296 ith terminal dendrites ending in the ventral spinocerebellar tract.

297 ception) is relayed to the cerebellum by the spinocerebellar tracts (SCTs).

298 ing nerves, atrophy of the spinothalamic and spinocerebellar tracts and posterior column-medial lemni

299 generation in the cerebellum, brain stem and spinocerebellar tracts.

300 a-III spectrin gene, SPTBN2, associated with spinocerebellar type 5 in humans.