ライフサイエンスコーパス: spinocerebellar

1 Infantile onset spinocerebellar ataxia (IOSCA) (MIM 271245) is a severe

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

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

4 Spinocerebellar ataxia (SCA) in the Parson Russell Terri

5 Spinocerebellar ataxia (SCA), previously known as autoso

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

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

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

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

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

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

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

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

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

21 Spinocerebellar ataxia 2 (SCA2) is a neurodegenerative d

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

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

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

25 Spinocerebellar ataxia 38 (SCA38) is caused by mutations

26 ker linked to the neurodegenerative disorder spinocerebellar ataxia 5.

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

28 esponsible for the neurodegenerative disease spinocerebellar ataxia 7 (SCA7).

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

30 urodegenerative disorders such as hereditary spinocerebellar ataxia and Huntington's disease.

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

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

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

37 Since spinocerebellar ataxia is associated with mutations in h

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

39 are clinically indistinguishable from other spinocerebellar ataxia patients.

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

41 Spinocerebellar ataxia syndromes presenting in adulthood

42 yglutamine expansion diseases, which include spinocerebellar ataxia type 1 (SCA1) and Huntington dise

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

44 whose glutamine-repeat expanded form causes spinocerebellar ataxia type 1 (SCA1) in humans and exert

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 lethal neurode

49 Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerat

50 Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerat

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

52 The neurodegenerative disease Spinocerebellar ataxia type 1 (SCA1) is a polyglutamine

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

54 Spinocerebellar ataxia type 1 (SCA1) is an autosomal dom

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

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

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

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

59 Spinocerebellar ataxia type 1 (SCA1) is one of several n

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

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

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

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

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

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

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

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

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

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

73 Spinocerebellar ataxia type 1 is an autosomal dominant c

74 Spinocerebellar ataxia type 1 is an autosomal dominant f

75 Spinocerebellar ataxia type 1 is caused by expansion of

76 Spinocerebellar ataxia type 1 is one of nine polyglutami

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

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

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

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

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

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

83 elated progressive neurodegeneration seen in spinocerebellar ataxia type 1.

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

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

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

89 Spinocerebellar ataxia type 10 (SCA10) is associated wit

90 Spinocerebellar ataxia type 10 (SCA10) is one of numerou

91 Spinocerebellar ataxia type 10 is an autosomal dominant

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

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

94 Bbeta regulatory subunit gene is mutated in spinocerebellar ataxia type 12, and one of its splice va

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

96 Spinocerebellar ataxia type 13 (SCA13) patients carrying

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

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

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

100 Spinocerebellar ataxia type 13 is a rare autosomal-domin

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

116 give rise to the neurodegenerative disorders spinocerebellar ataxia type 2 and Parkinson's disease.

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

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

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

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

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

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

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

124 Spinocerebellar ataxia type 23 is caused by mutations in

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

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

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

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

129 Spinocerebellar ataxia type 28 (SCA28) is a neurodegener

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

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

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

133 = 12, age range 21-55 years, seven female), spinocerebellar ataxia type 3 (n = 10, age range 34-67 y

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

135 Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerat

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

137 processing modulated toxicity induced by the spinocerebellar ataxia type 3 (SCA3) protein.

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

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

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

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

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

143 quitin pathways in the polyglutamine disease spinocerebellar ataxia type 3 (SCA3).

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

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

146 Spinocerebellar ataxia type 3 is a human neurodegenerati

147 Spinocerebellar ataxia type 3 is a neurodegenerative dis

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

149 Spinocerebellar ataxia type 3 is one of the polyglutamin

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

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

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

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

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

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

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

157 Spinocerebellar ataxia type 3, spinocerebellar ataxia ty

158 he polyglutamine neurodegenerative disorder, Spinocerebellar Ataxia Type 3.

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

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

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

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

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

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

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

166 The difference missed significance in spinocerebellar ataxia type 3.

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

168 glutamine tract in ataxin-3 (AT3) results in spinocerebellar ataxia type 3/Machado-Joseph disease, on

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

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

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

172 Spinocerebellar ataxia type 5 (SCA5) and spectrin associ

173 t beta-III spectrin (SPTBN2) mutations cause spinocerebellar ataxia type 5 (SCA5) in an 11-generation

174 Spinocerebellar ataxia type 5 (SCA5) is a neurodegenerat

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

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

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

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

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

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

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

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

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

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

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

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

187 amine tract which, when expanded (Q33) as in spinocerebellar ataxia type 6 (SCA6), is toxic to cells.

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

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

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

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

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

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

194 In spinocerebellar ataxia type 6, pathology was not restric

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

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

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

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

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

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

201 Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerat

202 Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerat

203 Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerat

204 Spinocerebellar ataxia type 7 (SCA7) is a polyglutamine

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

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

207 Spinocerebellar ataxia type 7 (SCA7) is characterized by

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

209 or CAG/CTG repeat instability in the case of spinocerebellar ataxia type 7 (SCA7), one of the most un

210 In the polyglutamine disease spinocerebellar ataxia type 7 (SCA7), Purkinje cells und

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

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

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

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

215 Spinocerebellar ataxia type 8 (SCA8) patients typically

216 usly reported that a (CTG)n expansion causes spinocerebellar ataxia type 8 (SCA8), a slowly progressi

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

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

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

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

221 domain of ataxin-1, the protein involved in spinocerebellar ataxia type-1, is the region responsible

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

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

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

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

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

227 rom lymphoblastoid cells derived either from spinocerebellar ataxia with axonal neuropathy (SCAN1) pa

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

229 The inherited disorder, spinocerebellar ataxia with axonal neuropathy (SCAN1), i

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

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

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

233 The spinocerebellar ataxia with axonal neuropathy neurodegen

234 Spinocerebellar ataxia with axonal neuropathy-1 (SCAN1)

235 DNA likely explains the recessive nature of spinocerebellar ataxia with axonal neuropathy.

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

237 of gkt causes the neurodegenerative disease spinocerebellar ataxia with neuropathy (SCAN1), making i

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

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

240 herited sideroblastic anemia associated with spinocerebellar ataxia, and is due to mutations in the m

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

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

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 sorders, including Alpers syndrome, juvenile spinocerebellar ataxia-epilepsy syndrome, and progressiv

247 ble neurological disorder autosomal dominant spinocerebellar ataxia.

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

249 ed deubiquitinating enzyme mutated in type-3 spinocerebellar ataxia.

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

251 The dominantly inherited spinocerebellar ataxias (SCA) are a clinically and genet

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

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

254 Spinocerebellar ataxias (SCAs) are a genetically heterog

255 The autosomal dominant spinocerebellar ataxias (SCAs) are a group of neurodegen

256 Spinocerebellar ataxias (SCAs) are a heterogeneous group

257 The spinocerebellar ataxias (SCAs) are a phenotypically and

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

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

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

261 mine diseases such as Huntington disease and spinocerebellar ataxias (SCAs).

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

263 to the pathogenesis of dominantly inherited spinocerebellar ataxias and the current therapeutic stra

264 The spinocerebellar ataxias are a genetically heterogeneous

265 Spinocerebellar ataxias are dominantly inherited neurode

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

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

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

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

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

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

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

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

274 at expansions in seven different genes cause spinocerebellar ataxias.

275 atorubral-pallidoluysian atrophy and several spinocerebellar ataxias.

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

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

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

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

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

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

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 cile these properties with any of the direct spinocerebellar pathways or spinoreticulocerebellar path

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

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

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

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

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.