ライフサイエンスコーパス: spastic paraplegia

1 e human gene mutated in a form of hereditary spastic paraplegia.

2 stin is mutated in the axonopathy hereditary spastic paraplegia.

3 amyotrophic lateral sclerosis and hereditary spastic paraplegia.

4 irst causal treatment strategy in hereditary spastic paraplegia.

5 PG3A, a common autosomal dominant hereditary spastic paraplegia.

6 e usual clinical presentation of progressive spastic paraplegia.

7 tin, is the chief gene mutated in hereditary spastic paraplegia.

8 hain gene KIF5A, in a family with hereditary spastic paraplegia.

9 es leads to phenotypes resembling hereditary spastic paraplegia.

10 nt with mild Pelizaeus-Merzbacher disease or spastic paraplegia.

11 g disorders such as Pelizaeus-Merzbacher and spastic paraplegia.

12 ch's ataxia, Wilson's disease and hereditary spastic paraplegia.

13 over time show progressive motor symptoms, a spastic paraplegia.

14 od model system for understanding hereditary spastic paraplegia.

15 dered the most frequent metabolic hereditary spastic paraplegia.

16 e, highlighting the genetic heterogeneity of spastic paraplegia.

17 s, consistent with a diagnosis of hereditary spastic paraplegia.

18 to motor neuron diseases, such as hereditary spastic paraplegia.

19 uting factor to early autonomic symptoms and spastic paraplegia.

20 developmental defects and a familial form of spastic paraplegia.

21 has been associated with a familial form of spastic paraplegia.

22 stin are the most common cause of hereditary spastic paraplegia.

23 h define a diverse set of complex hereditary spastic paraplegias.

24 ns in kinesin family member 5A (KIF5A) cause spastic paraplegia 10.

25 otypic ER-shaping proteins, in families with spastic paraplegia 12 (SPG12).

26 and splice-site) associated with hereditary spastic paraplegia 4 (HSP-SPG4) (SPG4:OMIM#182601) has s

27 (mutations in which cause autosomal-dominant spastic paraplegia 4 [SPG4]) have been described, their

28 dentified a necessary and conserved role for spastic paraplegia 7 (SPG7) in Ca(2+)- and ROS-induced P

29 23), Klip-Feil syndrome (8q22.2), hereditary spastic paraplegia (8q24), and benign adult familial myo

30 ype 5 (SPG5) is a rare subtype of hereditary spastic paraplegia, a highly heterogeneous group of neur

31 sociated with various subtypes of hereditary spastic paraplegia, a highly heterogeneous group of neur

32 been identified in patients with hereditary spastic paraplegias, a diverse group of neurological dis

33 encoding a later step, result in hereditary spastic paraplegia accompanied by intellectual deficits.

34 sense mutations in AP5Z1 and presenting with spastic paraplegia accompanied by neuropathy, parkinsoni

35 Autosomal-dominant pure hereditary spastic paraplegia (AD-HSP) is characterized by the dege

36 rative disease autosomal dominant-hereditary spastic paraplegia (AD-HSP).

37 lies with autosomal dominant pure hereditary spastic paraplegia (ADPHSP), to examine the relative fre

38 eration: many candidate genes for hereditary spastic paraplegia also have central roles in lipid-drop

39 tified in genes usually associated with pure spastic paraplegia and also in the Parkinson's disease-a

40 Next, we screened a cohort of hereditary spastic paraplegia and cerebellar ataxia cases (n = 618)

41 in genetic neurological diseases (hereditary spastic paraplegia and cerebellar ataxia).

42 POLR3A to be a frequent cause of hereditary spastic paraplegia and cerebellar ataxia.

43 e fusion gene data could explain a report of spastic paraplegia and dementia cosegregating in a famil

44 hich affected subjects exhibited progressive spastic paraplegia and distal muscle wasting.

45 patients suffering from SPG4-type hereditary spastic paraplegia and explain why single amino acid exc

46 ncreased EAE-related mortality, nonremitting spastic paraplegia and hemorrhagic inflammatory lesions.

47 in neurological disorders such as hereditary spastic paraplegia and hereditary sensory neuropathy.

48 erosis, infantile-onset ascending hereditary spastic paraplegia and juvenile primary lateral sclerosi

49 ns with intellectual disability, progressive spastic paraplegia and short stature, born to a consangu

50 fficking is a common theme between heritable spastic paraplegia and some inherited epilepsies.

51 e: amyotrophic lateral sclerosis, hereditary spastic paraplegia and spinal muscular atrophy.

52 h rare movement disorders such as hereditary spastic paraplegias and cerebellar ataxias remain geneti

53 bone and frontotemporal dementia, hereditary spastic paraplegia, and 1-2% of familial amyotrophic lat

54 ith spastic paraparesis mimicking hereditary spastic paraplegia, and a multiple sclerosis-like illnes

55 e, amyotrophic lateral sclerosis, hereditary spastic paraplegia, and cerebellar degenerations.

56 s callosum hypoplasia, retardation, aphasia, spastic paraplegia, and hydrocephalus), and L1 knock-out

57 um hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus).

58 n is mutated in the human disease hereditary spastic paraplegia, and its link to WASH suggests that m

59 r, nasal, and dental) and limb dysmorphisms, spastic paraplegia, and neurodegeneration.

60 in the neurodegenerative disease hereditary spastic paraplegia, and of ichthyin, mutated in autosoma

61 autonomic neuropathy, complicated hereditary spastic paraplegia, and select hereditary metabolic neur

62 ions were found in patients with ichthyosis, spastic paraplegia, and severe neurodevelopmental defect

63 ost common locus for mutations in hereditary spastic paraplegias, and katanin are related microtubule

64 Hereditary spastic paraplegias are a clinically and genetically het

65 The hereditary spastic paraplegias are a heterogeneous group of degener

66 Hereditary spastic paraplegias are a large, diverse group of neurol

67 Hereditary spastic paraplegias are heterogeneous neurological disor

68 Hereditary spastic paraplegias are inherited neurological disorders

69 identified in autosomal recessive hereditary spastic paraplegia (ARHSP).

70 r ataxias and autosomal recessive hereditary spastic paraplegias (ARHSPs) are clinically and genetica

71 utosomal dominant pure or complex hereditary spastic paraplegia, as well as in two sporadic patients.

72 assified as a complicated form of hereditary spastic paraplegia, associated with mutation in the etha

73 in NTE have been shown to cause a Hereditary Spastic Paraplegia called NTE-related Motor-Neuron Disor

74 l longer axons, and support a model in which spastic paraplegia can be caused by impairment of axonal

75 gait (SPG)1 to -57], over half of hereditary spastic paraplegia cases are caused by pathogenic mutati

76 yndrome is an autosomal recessive hereditary spastic paraplegia caused by mutation in the spartin (SP

77 Mutations in PNPLA6 also cause human spastic paraplegia characterized by motor neuron degener

78 eterozygous female member were affected with spastic paraplegia characterized by relatively late onse

79 Hereditary spastic paraplegias comprise a group of clinically heter

80 ven to these patients included dementia with spastic paraplegia, corticobasal degeneration syndrome,

81 ave been linked to diseases such as familial spastic paraplegia, developmental delay with premature d

82 , spinal cord injury, stiff-person syndrome, spastic paraplegia, dystonia and Parkinson disease.

83 gical disorders, particularly the hereditary spastic paraplegias, emphasizing the importance of prope

84 Several causative genes for hereditary spastic paraplegia encode proteins with intramembrane ha

85 Hereditary spastic paraplegia exhibits axonal degeneration that is

86 The existence of hereditary spastic paraplegia families for whom the disorder is unl

87 Autosomal dominant familial spastic paraplegia (FSP) is a genetically heterogeneous

88 Efforts to positionally clone the hereditary spastic paraplegia gene are in progress.

89 o most common autosomal recessive hereditary spastic paraplegia gene products, the SPG15 protein spas

90 Mutations in the Spastic Paraplegia Gene11 (SPG11), encoding spatacsin, c

91 ns in several loci known collectively as the spastic paraplegia genes (SPGs).

92 variants in a number of other known complex spastic paraplegia genes, including five in SPG7 (5/97),

93 e 2p, 14q, and 15q), and x-linked hereditary spastic paraplegia have been identified.

94 Complex recessive spastic paraplegias have in the past been frequently ass

95 neuromuscular diseases including hereditary spastic paraplegia, hereditary sensory neuropathy type 1

96 lt in similar problems that cause hereditary spastic paraplegia (HSP) and Charcot-Marie-Tooth type 2

97 of upper and lower motor neurons, hereditary spastic paraplegia (HSP) and distal hereditary motor neu

98 autosomal recessive (AR) complex hereditary spastic paraplegia (HSP) and juvenile onset amyotrophic

99 Two syndromes - hereditary spastic paraplegia (HSP) and mycobacterial disease - thu

100 itary cerebellar ataxia (HCA) and hereditary spastic paraplegia (HSP) are scarce.

101 yndrome is an autosomal recessive hereditary spastic paraplegia (HSP) caused by frameshift mutations

102 Hereditary spastic paraplegia (HSP) comprises a group of clinically

103 Hereditary spastic paraplegia (HSP) describes a heterogeneous group

104 Hereditary spastic paraplegia (HSP) is a clinically and genetically

105 Hereditary spastic paraplegia (HSP) is a collection of neurological

106 Hereditary Spastic Paraplegia (HSP) is a devastating neurological d

107 Complex hereditary spastic paraplegia (HSP) is a genetic disorder that caus

108 Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder

109 Hereditary spastic paraplegia (HSP) is a neurological syndrome char

110 The commonest cause of hereditary spastic paraplegia (HSP) is mutation in the spastin gene

111 n autosomal recessive complicated hereditary spastic paraplegia (HSP) that occurs with high frequency

112 Hereditary spastic paraplegia (HSP) type 2 is a proteolipid protein

113 its four subunits cause a form of hereditary spastic paraplegia (HSP) with intellectual disability.

114 stin, strumpellin, or REEP1 cause hereditary spastic paraplegia (HSP), a disease characterized by axo

115 in an autosomal dominant form of hereditary spastic paraplegia (HSP), a motor-neurological disorder

116 e an unbranched ER morphology and hereditary spastic paraplegia (HSP), a neurodegenerative disease ch

117 stin are the most common cause of hereditary spastic paraplegia (HSP), a neurodegenerative disease th

118 tified in patients suffering from hereditary spastic paraplegia (HSP), a neurodegenerative disorder a

119 Mutations of various genes cause hereditary spastic paraplegia (HSP), a neurological disease involvi

120 plex, have been reported to cause hereditary spastic paraplegia (HSP), although their impact at the c

121 hy (SMA), Multiple Sclerosis (MS) Hereditary Spastic Paraplegia (HSP), and Huntington's Disease (HD).

122 cot-Marie-Tooth disease (CMT) and Hereditary Spastic Paraplegia (HSP), but the mechanism of its invol

123 In hereditary spastic paraplegia (HSP), the axons of cortical motor ne

124 in an autosomal recessive form of hereditary spastic paraplegia (HSP).

125 ing spastin and atlastin, lead to hereditary spastic paraplegia (HSP).

126 use an axon degenerative disease, hereditary spastic paraplegia (HSP).

127 tReact effect in humans with pure hereditary spastic paraplegia (HSP).

128 The hereditary spastic paraplegias (HSPs) (SPG1-29) comprise a group of

129 The hereditary spastic paraplegias (HSPs) are a genetically and clinica

130 The pure hereditary spastic paraplegias (HSPs) are a group of conditions in

131 Hereditary spastic paraplegias (HSPs) are a group of diseases cause

132 Hereditary spastic paraplegias (HSPs) are a group of genetically he

133 Hereditary spastic paraplegias (HSPs) are a large, genetically dive

134 The hereditary spastic paraplegias (HSPs) are a rare and heterogeneous

135 The hereditary spastic paraplegias (HSPs) are characterized by spastici

136 Hereditary spastic paraplegias (HSPs) are clinically and geneticall

137 The hereditary spastic paraplegias (HSPs) are genetic conditions charac

138 Hereditary spastic paraplegias (HSPs) are genetically driven disord

139 The hereditary spastic paraplegias (HSPs) are genetically heterogeneous

140 The hereditary spastic paraplegias (HSPs) are heterogeneous neurodegene

141 Hereditary spastic paraplegias (HSPs) are neurodegenerative motor n

142 The family of genes implicated in hereditary spastic paraplegias (HSPs) is quickly expanding, mostly

143 Hereditary spastic paraplegias (HSPs), a group of neurodegenerative

144 drome, one of several complicated hereditary spastic paraplegias (HSPs).

145 ein 1 (REEP1) are associated with hereditary spastic paraplegias (HSPs).

146 Hereditary spastic paraplegias (HSPs, SPG1-46) are inherited neurol

147 Hereditary spastic paraplegias (HSPs; SPG1-45) are inherited neurol

148 Hereditary spastic paraplegias (HSPs; SPG1-48) are inherited neurol

149 Hereditary spastic paraplegias (HSPs; SPG1-76 plus others) are leng

150 The hereditary spastic paraplegias (HSPs; Strumpell-Lorrain syndrome, M

151 pus callosum agenesis, retardation, aphasia, spastic paraplegia, hydrocephalus).

152 s callosum hypoplasia, retardation, aphasia, spastic paraplegia, hydrocephalus).

153 and by far the most common cause of complex spastic paraplegia in the UK, with severe and progressiv

154 set seizures, severe developmental delay and spastic paraplegia, in whom whole-genome sequencing reve

155 INS220/ARMS in three unrelated patients with spastic paraplegia, intellectual disability, nystagmus,

156 Hereditary spastic paraplegia is a highly heterogeneous group of ne

157 Clinical data showed that spastic paraplegia is accompanied by a number of other f

158 form of pure, autosomal dominant hereditary spastic paraplegia is caused by mutation in the ATL1 gen

159 ommon form of autosomal recessive hereditary spastic paraplegia is caused by mutations in the SPG11/K

160 Pure hereditary spastic paraplegia is characterized by length-dependent

161 assified as either 'pure' or 'complex' where spastic paraplegia is complicated with additional neurol

162 nant lower limb spasticity, or complex where spastic paraplegia is complicated with additional neurol

163 Hereditary spastic paraplegia is genetically diverse: loci for auto

164 additional, as yet undiscovered, hereditary spastic paraplegia loci.

165 10 and possibly of other forms of hereditary spastic paraplegia may involve perturbation of neuronal

166 ghter, muscular hypotonia that progressed to spastic paraplegia, microcephaly, foot deformity, decrea

167 tion is the main regulator of the hereditary spastic paraplegia microtubule severing enzyme spastin.

168 Other features include spastic paraplegia, mild ataxia, mild cognitive deficien

169 in produces similar phenotypes of hereditary spastic paraplegia (mitochondrial dysfunction and defect

170 functional defects of an atypical hereditary spastic paraplegia mutant, ATL1-F151S, that is impaired

171 egenerative disorder mainly characterized by spastic paraplegia, optic atrophy and neuropathy (SPOAN)

172 have the unusual combination of early-onset spastic paraplegia, optic atrophy, and neuropathy.

173 ew insights into the pathology of hereditary spastic paraplegia, particularly how mutations in multip

174 in the clinico-genetic work-up of hereditary spastic paraplegia, particularly in dominant cases, as t

175 h the microtubule cytoskeleton in hereditary spastic paraplegia pathogenesis.

176 rise from mutations identified in hereditary spastic paraplegia patients.

177 SPG7 could not be excluded, and 29 sporadic spastic paraplegia patients.

178 , parkinsonism, muscle weakness, neuropathy, spastic paraplegia, personality/behavioral problems, and

179 y classified as a complex form of hereditary spastic paraplegia, present in families from Kuwait, Ita

180 rst demonstration of a role for a hereditary spastic paraplegia protein or ichthyin family member in

181 ity Gene2) and Bhlhb5 (mutated in Hereditary Spastic Paraplegia), providing a molecular handle to inv

182 ional progression rate of 0.56 points on the Spastic Paraplegia Rating Scale per year was slightly lo

183 Clinical severity was assessed by the Spastic Paraplegia Rating Scale.

184 ated a series of 97 index cases with complex spastic paraplegia referred to a tertiary referral neuro

185 Hereditary spastic paraplegia refers to a group of clinically simil

186 number of other diseases--including familial spastic paraplegia, schizophrenia, bipolar affective dis

187 in the neurodegenerative disease hereditary spastic paraplegia, severs microtubules.

188 Pure hereditary spastic paraplegia (SPG) type 4 is the most common form

189 The hereditary spastic paraplegias (SPG1-33) comprise a cluster of inhe

190 that are mutated in patients with hereditary spastic paraplegia, SPG11 and SPG15.

191 lity syndrome, and three forms of hereditary spastic paraplegia, SPG11, SPG15 and SPG49 caused by SPG

192 HD2 genes cause specific types of hereditary spastic paraplegia (SPG28 and SPG54, respectively), and

193 been identified in both a form of hereditary spastic paraplegia (SPG35) and a progressive familial le

194 The early onset hereditary spastic paraplegia SPG3A is caused by mutations in the a

195 had normal development with childhood-onset spastic paraplegia, spinal lesion, and optic atrophy.

196 nd implies disease mechanisms for hereditary spastic paraplegia that involve dependence of the microt

197 Motor signs developed ascending from spastic paraplegia to tetraplegia and pseudobulbar palsy

198 Spastic paraplegia type 2 (SPG2) is allelic to Pelizaeus

199 Using a mouse model of hereditary spastic paraplegia type 2 due to a null mutation of the

200 Spastic paraplegia type 5 (SPG5) is a rare subtype of he

201 nder investigation; recent studies show that spastic paraplegia type 5, a progressive neuropathy, is

202 Spastic paraplegia types 4 (prevalence, 0.91 per 100,000

203 mutations cause a common form of hereditary spastic paraplegia, we suggest ER-shaping defects as a n

204 use an autosomal dominant form of hereditary spastic paraplegia, which is a retrograde axonopathy pri

205 patients with adult onset leukodystrophy or spastic paraplegia with early onset of urinary symptoms

206 utations, and predominant complex hereditary spastic paraplegia with marked cognitive impairment, wit

207 es related to autosomal recessive hereditary spastic paraplegia with thin corpus callosum and axonal

208 uent cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum and periphe

209 cal findings were neurogenic bladder (100%), spastic paraplegia with vibration loss (90%), and axonal

210 late-onset, slowly progressive, complicated spastic paraplegia, with normal or near-normal psychomot

211 ly progressive type of cerebellar ataxia and spastic paraplegia, without intellectual disability.