ライフサイエンスコーパス: cerebellar ataxia

1 diseases (hereditary spastic paraplegia and cerebellar ataxia).

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

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

4 stones, along with learning difficulties and cerebellar ataxia.

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

6 or the diagnosis and treatment of idiopathic cerebellar ataxia.

7 tibodies in non-paraneoplastic patients with cerebellar ataxia.

8 urkinje cell activity and to induce episodic cerebellar ataxia.

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

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

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

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

13 disrupting their activity results in severe cerebellar ataxia.

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

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

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

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

18 rrent density in Purkinje neurons also cause cerebellar ataxia.

19 after a long illness characterized by severe cerebellar ataxia.

20 as a potentially treatable cause of sporadic cerebellar ataxia.

21 lar degeneration in patients with hereditary cerebellar ataxia.

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

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

24 familial febrile convulsion and Cayman type cerebellar ataxia.

25 th molecularly confirmed autosomal recessive cerebellar ataxia.

26 apraxia, axonal neuropathy, and progressive cerebellar ataxia.

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

28 inflammatory myelitis, postural tremor, and cerebellar ataxia.

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

30 and outcomes among patients with autoimmune cerebellar ataxia.

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

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

33 velopmental delay, generalized hypotonia and cerebellar ataxia.

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

35 patients presenting with chronic progressive cerebellar ataxia.

36 t cause of hereditary spastic paraplegia and cerebellar ataxia.

37 tive denervation on electromyography without cerebellar ataxia.

38 center for evaluation of chronic progressive cerebellar ataxia.

39 o most frequent forms of autosomal recessive cerebellar ataxias.

40 transplantation for counteracting the human cerebellar ataxias.

41 e genetics and clinical heterogeneity of the cerebellar ataxias.

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

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

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

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

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

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

48 Cerebellar ataxia, a devastating neurological disease, m

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

65 decline resembling frontotemporal dementia, cerebellar ataxia and myopathy.

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

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

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

69 autosomal dominant disorder characterized by cerebellar ataxia and seizures.

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

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

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

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

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

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

76 Autosomal recessive cerebellar ataxias and autosomal recessive hereditary sp

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

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

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

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

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

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

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

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

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

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

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

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

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

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

91 Cerebellar ataxias are a diverse collection of neurologi

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

93 Cerebellar ataxias are a group of progressive, debilitat

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

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

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

97 Cerebellar ataxias are the result of diverse disease pro

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

113 Cerebellar ataxias currently lack a curative agent.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

132 47 isolated cases with idiopathic late onset cerebellar ataxia (ILOCA), were analysed for this mutati

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

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

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

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

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

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

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

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

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

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

143 17 patients from four families affected with cerebellar ataxia, including the large Lebanese family p

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

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

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

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

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

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

150 Cayman cerebellar ataxia is characterized by marked psychomotor

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

178 Most cerebellar ataxias progress very slowly and quantitative

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

180 Cerebellar ataxias represent a spectrum of disorders whi

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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