ライフサイエンスコーパス: spastic paraplegia

1 ion of adolescent-onset, isolated hereditary spastic paraplegia.

2 developmental defects and a familial form of spastic paraplegia.

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

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

5 s been linked to SPG13, a form of hereditary spastic paraplegia.

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

7 stin is mutated in the axonopathy hereditary spastic paraplegia.

8 amyotrophic lateral sclerosis and hereditary spastic paraplegia.

9 PG3A, a common autosomal dominant hereditary spastic paraplegia.

10 e usual clinical presentation of progressive spastic paraplegia.

11 lly involved in MND, particularly hereditary spastic paraplegia.

12 1 (UBAP1) gene, which co-segregated with the spastic paraplegia.

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

14 es leads to phenotypes resembling hereditary spastic paraplegia.

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

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

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

18 presenting with a complex form of hereditary spastic paraplegia.

19 nd developmental brain abnormalities to pure spastic paraplegia.

20 15 (SPG15), a complicated form of hereditary spastic paraplegia.

21 apitulates phenotypic features of hereditary spastic paraplegia.

22 ndings that overlap with both cutis laxa and spastic paraplegia.

23 rodegenerative diseases including hereditary spastic paraplegia.

24 esentation was a pure lower limb predominant spastic paraplegia.

25 izes the genetic heterogeneity of hereditary spastic paraplegia.

26 s in UBAP1 can cause pure autosomal dominant spastic paraplegia.

27 irst causal treatment strategy in hereditary spastic paraplegia.

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

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

30 od model system for understanding hereditary spastic paraplegia.

31 dered the most frequent metabolic hereditary spastic paraplegia.

32 e, highlighting the genetic heterogeneity of spastic paraplegia.

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

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

35 uting factor to early autonomic symptoms and spastic paraplegia.

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

37 royer syndrome, a form of complex hereditary spastic paraplegia(1).

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

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

40 d adaptive immune cells in a murine model of spastic paraplegia 15 (SPG15), a complicated form of her

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

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

43 ation in ENTPD1, a gene previously linked to spastic paraplegia 64 (Mendelian Inheritance in Man # 61

44 diverse cellular activities (m-AAA) protease spastic paraplegia 7 (SPG7) has been recently implicated

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

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

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

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

49 tation in mHsp60 causes a form of hereditary spastic paraplegia, a neurodegenerative disease.

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

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

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

53 cular features of AP-4-associated hereditary spastic paraplegia across the age spectrum our results w

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

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

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

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

58 's disease, Huntington's disease, hereditary spastic paraplegia, amyotrophic lateral sclerosis, and C

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

60 utant identified in patients with hereditary spastic paraplegia and associated with disrupted ESCRT f

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

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

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

64 a disease gene for a new complex hereditary spastic paraplegia and confirm that etherlipid homeostas

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

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

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

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

69 in 24 cases in human neuropathies including spastic paraplegia and hereditary sensory and autonomic

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

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

72 milies with an autosomal dominant hereditary spastic paraplegia and lacking mutations in known heredi

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

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

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

76 ng as a candidate key pathway for hereditary spastic paraplegias and cerebellar ataxias and thus prio

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

78 pedigrees with autosomal dominant hereditary spastic paraplegias and lacking mutations in known causa

79 ulation of disease progression in hereditary spastic paraplegias and other MNDs.

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

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

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

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

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

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

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

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

88 ase, hypoxia, multiple sclerosis, hereditary spastic paraplegia, and others.

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

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

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

92 e most common autosomal recessive hereditary spastic paraplegias, and the SPG11 protein spatacsin for

93 4 (AP-4) leads to childhood-onset hereditary spastic paraplegia (AP-4-HSP): SPG47 (AP4B1), SPG50 (AP4

94 Hereditary spastic paraplegias are a clinically and genetically het

95 Hereditary spastic paraplegias are a diverse group of degenerative

96 The hereditary spastic paraplegias are a heterogeneous group of degener

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

98 Hereditary spastic paraplegias are characterized by lower limb spas

99 Hereditary spastic paraplegias are heterogeneous neurodegenerative

100 Hereditary spastic paraplegias are heterogeneous neurological disor

101 Hereditary spastic paraplegias are inherited neurological disorders

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

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

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

105 tion channel, in individuals with hereditary spastic paraplegias associated with mild intellectual di

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

107 tion variants who presented with early onset spastic paraplegia, ataxia, optic nerve hypoplasia, and

108 ncluded neurodevelopmental delay, hypotonia, spastic paraplegia, brain white matter loss, and dysmorp

109 utations in REEP1 and REEP2 cause Hereditary Spastic Paraplegia, but the function of these four REEP

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

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

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

113 broad pools of previously unknown hereditary spastic paraplegia causative genes and subtypes, we perf

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

115 totypical form of childhood-onset hereditary spastic paraplegia characterized by mislocalization of t

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

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

118 Hereditary spastic paraplegias comprise a group of clinically heter

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

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

121 ein KIF5A have been implicated to hereditary spastic paraplegia disease (HSP), a lethal neurodegenera

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

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

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

125 Hereditary spastic paraplegia exhibits axonal degeneration that is

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

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

128 Spastic paraplegia gene 11(SPG11)-linked hereditary spas

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

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

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

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

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

134 bellar ataxia type 2, ataxia telangiectasia, spastic paraplegia, giant axonal neuropathy, and fumarat

135 SPG50 is characterized by progressive spastic paraplegia, global developmental delay, and subs

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

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

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

139 ociated neurodegeneration, FAHN), hereditary spastic paraplegia (HSP type SPG35) and leukodystrophy (

140 RLIN1, ERLIN2) are known to cause hereditary spastic paraplegia (HSP) and cerebellar ataxia.

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

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

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

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

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

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

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

148 Hereditary spastic paraplegia (HSP) comprises a heterogeneous group

149 cot-Marie-Tooth type 2 (CMT2) and Hereditary Spastic Paraplegia (HSP) depending on the affected neuro

150 Hereditary spastic paraplegia (HSP) describes a heterogeneous group

151 Hereditary spastic paraplegia (HSP) describes a heterogeneous group

152 of an autosomal-dominant gene for hereditary spastic paraplegia (HSP) in 10 families that are of dive

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

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

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

156 Hereditary spastic paraplegia (HSP) is a disease in which dieback d

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

158 Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder

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

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

161 nt alleles of Atlastin-1 found in Hereditary Spastic Paraplegia (HSP) patients show similar ER phenot

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

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

164 IAA0196) cause autosomal dominant hereditary spastic paraplegia (HSP) type SPG8.

165 reviously in complicated forms of hereditary spastic paraplegia (HSP) underlies progressive spastic p

166 milies with a complicated form of hereditary spastic paraplegia (HSP) who carry bi-allelic deleteriou

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

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

169 odegenerative diseases, including hereditary spastic paraplegia (HSP), a disorder characterized by sp

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

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

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

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

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

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

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

177 A2 gene have been associated with hereditary spastic paraplegia (HSP), autosomal-recessive cerebellar

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

179 In the field of hereditary spastic paraplegia (HSP), progress in molecular diagnost

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

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

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

183 cause distal axon degeneration in Hereditary Spastic Paraplegia (HSP).

184 tin, are the most common cause of hereditary spastic paraplegia (HSP).

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

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

187 of autosomal-dominantly inherited hereditary spastic paraplegia (HSP-ATL1, SPG3A) with a predominantl

188 r neuron disease (MND), including hereditary spastic paraplegias (HSP), are associated with the death

189 ation is the most common cause of hereditary spastic paraplegias (HSP).

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

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

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

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

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

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

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

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

198 Hereditary spastic paraplegias (HSPs) are clinically and geneticall

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

200 Hereditary spastic paraplegias (HSPs) are genetically driven disord

201 The hereditary spastic paraplegias (HSPs) are genetically heterogeneous

202 The hereditary spastic paraplegias (HSPs) are heterogeneous neurodegene

203 Hereditary spastic paraplegias (HSPs) are neurodegenerative motor n

204 Hereditary spastic paraplegias (HSPs) comprise a large group of inh

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

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

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

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

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

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

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

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

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

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

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

216 ia and lacking mutations in known hereditary spastic paraplegia implicated genes.

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

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

219 etabolism have been implicated in hereditary spastic paraplegia, including SELENOI.

220 a and with a novel syndrome characterized by spastic paraplegia, intellectual disability, nystagmus a

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

222 paraplegia gene 11(SPG11)-linked hereditary spastic paraplegia is a complex monogenic neurodegenerat

223 Hereditary spastic paraplegia is a highly heterogeneous group of ne

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

225 For example, hereditary spastic paraplegia is associated with >80 genes, with fr

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

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

228 eurodegenerative disease that in addition to spastic paraplegia is characterized by childhood onset c

229 Pure hereditary spastic paraplegia is characterized by length-dependent

230 lower limb spasticity, or symptomatic, where spastic paraplegia is complicated by further neurologica

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

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

233 Hereditary spastic paraplegia is genetically diverse: loci for auto

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

235 10 and possibly of other forms of hereditary spastic paraplegia may involve perturbation of neuronal

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

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

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

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

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

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

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

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

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

245 h the microtubule cytoskeleton in hereditary spastic paraplegia pathogenesis.

246 rise from mutations identified in hereditary spastic paraplegia patients.

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

248 malities and cone-rod dystrophy (PCYT1A) and spastic paraplegia (PCYT2, SELENOI).

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

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

251 Here, we show that the hereditary spastic paraplegia protein M1 Spastin, a membrane-bound

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

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

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

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

256 Hereditary spastic paraplegias refer to a heterogeneous group of ne

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

258 Hereditary spastic paraplegia refers to a group of clinically simil

259 characterization of patients with hereditary spastic paraplegias represents progressive spasticity, e

260 e cause Troyer syndrome, a recessive form of spastic paraplegia resulting in muscle weakness, short s

261 genic variants in SPTSSA caused a hereditary spastic paraplegia resulting in progressive motor distur

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

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

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

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

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

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

268 t of families affected by autosomal dominant spastic paraplegia (SPG12-OMIM:604805) with a variable a

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

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

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

272 ms of childhood-onset and complex hereditary spastic paraplegia: SPG47 (AP4B1), SPG50 (AP4M1), SPG51

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

274 Hereditary spastic paraplegia subtype SPG54 is a genetic neurologic

275 cated form of autosomal-recessive hereditary spastic paraplegia termed AP-4-deficiency syndrome.

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

277 greatly, ranging from muscular dystrophy to spastic paraplegia to a childhood blinding disorder to b

278 varying from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spastic tetraplegi

279 s ranged from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spasticity and glo

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

281 Hereditary spastic paraplegia type 15 (HSP15) is a neurodegenerativ

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

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

284 1A), GM3 synthase deficiency, and hereditary spastic paraplegia type 26 (HSPG26), each lacking effect

285 Using spastic paraplegia type 4 (SPG4, the most frequent HSP s

286 Hereditary spastic paraplegia type 4 is characterized by gait impai

287 Hereditary spastic paraplegia type 47 (SPG47) is caused by bialleli

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

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

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

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

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

293 Loss of B4GALNT1 function causes hereditary spastic paraplegia, while its overexpression is linked t

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

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

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

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

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

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

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