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transport in the proximal axons of anterior horn neurons in amyotrophic lateral sclerosis. Neurology 47, 535–540 (1996). 117. Sasaki, S., Warita, H., Abe, K. & Iwata, M. Impairment of axonal transport in the axon hillock and the initial segment of anterior horn neurons in transgenic mice with a G93A mutant SOD1 gene. Acta Neuropathol.
118. Zhang, B., Tu, P., Abtahian, F., Trojanowski, J. Q. & Lee, V. M. Neurofilaments and orthograde transport are reduced in ventral root axons of transgenic mice that express human SOD1 with a G93A mutation.
119. Borchelt, D. R. et al. Axonal transport of mutant superoxide dismutase 1 and focal axonal abnormalities in the proximal axons of transgenic mice. Neurobiol. Dis. 5, 27–35 (1998). 120. Williamson, T. & Cleveland, D. Slowing of axonal transport is a very early event in the toxicity of ALS- linked SOD1 mutant to motor neurons. Nature Neurosci. 1, 50–56 (1999). 121. Murakami, T. et al. Impaired retrograde axonal transport of adenovirus-mediated E. coli LacZ gene in the mice carrying mutant SOD1 gene. Neurosci. Lett. 308, 149–152 (2001). 122. Rao, M. V. & Nixon, R. A. Defective neurofilament transport in mouse models of amyotrophic lateral sclerosis: a review. Neurochem. Res. 28, 1041–1047 (2003). 123. Ligon L. A. et al. Mutant superoxide dismutase disrupts cytoplasmic dynein in motor neurons. Neuroreport 16, 533–536 (2005). 124. Witherden, A. S. et al. An integrated genetic, radiation hybrid, physical and transcription map of a region of distal mouse chromosome 12, including an imprinted locus and the ‘Legs at odd angles’ (Loa) mutation.
125. Hafezparast, M. et al. Mutations in dynein link motor neuron degeneration to defects in retrograde transport. Science 300, 808–812 (2003). 126. LaMonte, B. H. et al. Disruption of dynein/dynactin inhibits axonal transport in motor neurons causing late-onset progressive degeneration. Neuron 34, 715–727 (2002). 127. Kieran, D. et al. A mutation in dynein rescues axonal transport defects and extends the life span of ALS mice. J. Cell Biol. 169, 561–567 (2005). 128. Teuchert, M. et al. A dynein mutation attenuates motor neuron degeneration in SOD1(G93A) mice.
129. Vande Velde, C., Garcia, M. L., Yin, X., Trapp, B. D. & Cleveland, D. W. The neuroprotective factor Wlds does not attenuate mutant SOD1-mediated motor neuron disease. Neuromolecular Med. 5, 193–203 (2004).
130. Pigino, G. et al. Alzheimer’s presenilin 1 mutations impair kinesin-based axonal transport. J. Neurosci. 23, 4499–4508 (2003). 131. Morfini, G., Pigino, G., Beffert, U., Busciglio, J. & Brady, S. T. Fast axonal transport misregulation and Alzheimer’s disease. Neuromolecular Med. 2, 89–99 (2002). 132. Trushina, E. et al. Mutant huntingtin impairs axonal trafficking in mammalian neurons in vivo and in vitro. Mol. Cell Biol. 24, 8195–8209 (2004). 133. Schmitt-John, T. et al. Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse. Nature Genet. 37, 1213–1215 (2005). 134. Rothstein, J., Kammen, M., Levey, A., Martin, L. & Kuncl, R. Selective loss of glial glutamate transporter GLT-1 in amyotrophic lateral sclerosis. Ann. Neurol. 38, 73–84 (1995). 135. Rothstein, J. D. et al. Abnormal excitatory amino acid metabolism in amyotrophic lateral sclerosis. Ann.
136. Rothstein, J. D., Martin, L. J. & Kuncl, R. W. Decreased glutamate transport by the brain and spinal cord in amyotrophic lateral sclerosis [see comments]. N. Engl. J. Med. 326, 1464–1468 (1992). 137. Arriza, J. L. et al. Functional comparisons of three glutamate transporter subtypes cloned from human motor cortex. J. Neurosci. 14, 5559–5569 (1994). 138. Arriza, J. L., Eliasof, S., Kavanaugh, M. P. & Amara, S. G. Excitatory amino acid transporter 5, a retinal glutamate transporter coupled to a chloride conductance. Proc. Natl Acad. Sci. USA 94, 4155–4160 (1997). 139. Fairman, W. A., Vandenberg, R. J., Arriza, J. L., Kavanaugh, M. P. & Amara, S. G. An excitatory amino- acid transporter with properties of a ligand-gated chloride channel. Nature 375, 599–603 (1995). 140. Trotti, D., Rolfs, A., Danbolt, N. C., Brown, R. H. Jr & Hediger, M. A. SOD1 mutants linked to amyotrophic lateral sclerosis selectively inactivate a glial glutamate transporter. Nature Neurosci 2, 848 (1999). 141. Howland, D. S. et al. Focal loss of the glutamate transporter EAAT2 in a transgenic rat model of SOD1 mutant-mediated amyotrophic lateral sclerosis (ALS). Proc. Natl Acad. Sci. USA 99, 1604–1609 (2002). 142. Lin, C. L. et al. Aberrant RNA processing in a neurodegenerative disease: the cause for absent EAAT2, a glutamate transporter, in amyotrophic lateral sclerosis. Neuron 20, 589–602 (1998). 143. Aoki, M. et al. Mutations in the glutamate transporter EAAT2 gene do not cause abnormal EAAT2 transcripts in amyotrophic lateral sclerosis. Ann. Neurol. 43, 645–653 (1998). 144. Trotti, D. et al. Amyotrophic lateral sclerosis-linked glutamate transporter mutant has impaired glutamate clearance capacity. J. Biol. Chem. 276, 576–582 (2001). 145. Alexianu, M. E. et al. The role of calcium-binding proteins in selective motoneuron vulnerability in amyotrophic lateral sclerosis. Ann. Neurol. 36, 846–858 (1994). 146. Williams, D. N. C. & Ince, P. G. α-amino-3-hydroxy-5- methyl-4-isoxazole propionic acid receptors: a molecular determinant of selective vulnerability in amyotrophic lateral sclerosis. Ann. Neurol. 42, 200–207 (1997). 147. Ince, P. G., Shaw, P. J., Slade, J. Y., Jones, C. & Hudgson, P. Familial amyotrophic lateral sclerosis with a mutation in exon 4 of the Cu/Zn superoxide dismutase gene: pathological and immunocytochemical changes. Acta Neuropathol.
148. Pramatarova, A., Laganiere, J., Roussel, J., Brisebois, K. & Rouleau, G. A. Neuron specific expression of mutant superoxide dismutase 1 in transgenic mice does not lead to motor neuron impairment. J. Neurosci. 21, 3369–3374 (2001). 149. Gong, Y. H., Parsadanian, A. S., Andreeva, A., Snider, W. D. & Elliott, J. L. Restricted expression of G86R Cu/Zn superoxide dismutase in astrocytes results in astrocytosis but does not cause motoneuron degeneration. J. Neurosci. 20, 660–665 (2000). 150. Clement, A. M. et al. Wild-type nonneuronal cells extend survival of SOD1 mutant motor neurons in ALS mice. Science 302, 113–117 (2003). Demonstrates the importance of non-neuronal cells in ALS pathogenesis. 151. Boillee, S. et al. Onset and progression in inherited ALS determined by motor neurons and microglia.
152. Wang, J. et al. Coincident thresholds of mutant protein for paralytic disease and protein aggregation caused by restrictively expressed superoxide dismutase cDNA. Neurobiol. Dis. 20, 943–952 (2005). 153. Lefebvre, S. et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80, 155–165 (1995). 154. Mersiyanova, I. V. et al. A new variant of Charcot- Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Am. J. Hum.
155. Bomont, P. et al. The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. Nature Genet. 26, 370–374 (2000). 156. Kuhlenbaumer, G. Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene. Neurology 58, 1273–1276 (2002). 157. Zhao, C. et al. Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1B β.
158. Zuchner, S. et al. Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nature Genet. 37, 289–294 (2005). 159. Zhao, X. et al. Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. Nature Genet. 29, 326–331 (2001). 160. Verhoeven, K. et al. Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie- Tooth type 2B neuropathy. Am. J. Hum. Genet. 72, 722–727 (2003). 161. Patel, H. et al. SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Nature Genet. 31, 347–348 (2002). 162. Antonellis, A. et al. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am. J. Hum. Genet. 72, 1293–1299 (2003). 163. Jordanova, A. et al. Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. Nature Genet. 38, 197–202 (2006). 164. Kalaydjieva, L. et al. N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom. Am. J. Hum. Genet. 67, 47–58 (2000). 165. Grohmann, K. et al. Mutations in the gene encoding immunoglobulin mubinding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nature Genet. 29, 75–77 (2001). 166. Evgrafov, O. V. et al. Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nature Genet. 36, 602–606 (2004). 167. Irobi, J., De Jonghe, P. & Timmerman, V. Molecular genetics of distal hereditary motor neuropathies.
168. White, R. J. & Reynolds, I. J. Mitochondrial depolarization in glutamate-stimulated neurons: an early signal specific to excitotoxin exposure. J. Neurosci. 16, 5688–5697 (1996). 169. Roa, B. B., Garcia, C. A. & Lupski, J. R. Charcot-Marie- Tooth disease type 1A: molecular mechanisms of gene dosage and point mutation underlying a common inherited peripheral neuropathy. Int. J. Neurol.
170. Hayasaka, K. et al. De novo mutation of the myelin P 0
sensory neuropathy type III). Nature Genet. 5, 266–268 (1993). 171. Street, V. A. et al. Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie- Tooth disease 1C. Neurology 60, 22–26 (2003). 172. Warner, L. E. et al. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nature Genet. 18, 382–384 (1998). 173. Baxter, R. V. et al. Ganglioside-induced differentiation- associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nature Genet. 30, 21–22 (2002). 174. Bolino, A. et al. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nature Genet. 25, 17–19 (2000). 175. Senderek, J. et al. Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. Hum. Mol. Genet. 12, 349–356 (2003).
176. Senderek, J. et al. Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.
177. Boerkoel, C. F. et al. Periaxin mutations cause recessive Dejerine-Sottas neuropathy. Am. J. Hum.
178. Bergoffen, J. et al. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 262, 2039–2042 (1993). 179. Bruijn, L. I. & Cudkowicz, M. Therapeutic targets for amyotrophic lateral sclerosis: current treatments and prospects for more effective therapies. Expert Rev.
180. Kaspar, B. K., Llado, J., Sherkat, N., Rothstein, J. D. & Gage, F. H. Retrograde viral delivery of IGF-1 prolongs survival in a mouse ALS model. Science 301, 839–842 (2003).
181. Raoul, C. et al. Lentiviral-mediated silencing of SOD1 through RNA interference retards disease onset and progression in a mouse model of ALS. Nature Med. 11, 423–428 (2005). 182. Ralph, G. S. et al. Silencing mutant SOD1 using RNAi protects against neurodegeneration and extends survival in an ALS model. Nature Med. 11, 429–433 (2005).
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Therapeutic gene silencing in neurological disorders, using interfering RNA. J. Mol. Med. 83, 413–419 (2005). 184. Maxwell, M. M., Pasinelli, P., Kazantsev, A. G. & Brown, R. H. Jr. RNA interference-mediated silencing of mutant superoxide dismutase rescues cyclosporin A-induced death in cultured neuroblastoma cells.
185. Miller, T. M. et al. Virus-delivered small RNA silencing sustains strength in amyotrophic lateral sclerosis.
186. Smith, R. A. et al. Antisense oligonucleotide therapy for neurodegenerative disease. J. Clin. Invest. 116, 2290–2296 (2006). 187. Wills, A. M. & Brown, R. H. Jr in Amyotrophic Lateral
Pasinelli, P.) 269–282 (Taylor & Francis, Abingdon, 2006). 188. Zuchner, S. et al. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nature Genet. 36, 449–451 (2004). 189. Zuchner, S. et al. Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nature Genet. 37, 289–294 (2005). 190. Verhoeven, K. et al. Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10. Am. J. Hum. Genet. 73, 926–932 (2003). 191. Bejaoui, K. et al. SPTLC1 is mutated in hereditary sensory neuropathy, type 1. Nature Genet. 27, 261–262 (2001). 192. Grandchamp, B. et al. Tissue-specific splicing mutation in acute intermittent porphyria. Proc. Natl Acad. Sci. USA 86, 661–664 (1989). 193. Goizet, C. et al. A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia. J. Med. Genet. 41, e29 (2004). 194. DeSandre-Giovannoli, A. et al. Homozygous defects in LMNa, encoding lamin A/C nuclear envelope proteins, cause autosomal recessive neuropathy in human (Charcot-Marie Tooth disorder, Type 2) and mouse. Am. J. Hum. Gen. 70, 726–736 (2002). 195. Howard, H. C. et al. The K–Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. Nature Genet. 32, 384–392 (2002). 196. Indo, Y. et al. Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. Nature Genet. 13, 485–488 (1996). 197. Kihara, H., Fluharty, A. L., O’Brien, J. S. & Fish, C. H. Metachromatic leukodystrophy caused by a partial cerebroside sulfatase. Clin. Genet. 21, 253–261 (1982). 198. Mihalik, S. J. et al. Identification of PAHX, a Refsum disease gene. Nature Genet. 17, 185–189 (1997). 199. Anderson, S. L. et al. Familial dysautonomia is caused by mutations of the IKAP gene. Am. J. Hum. Genet.
200. Rust, S. et al. Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. Nature Genet. 22, 352–355 (1999). 201. La Spada, A. R., Wilson, E. M., Luban, D. B., Harding, A. E. & Fischbeck, K. H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352, 77–79 (1991). 202. Yamada, K. et al. Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nature Genet. 35, 318–321 (2003). 203. Takeda, K. et al. Fine assignment of β-hexosaminidase A α subunit on 15q23–24 by high resolution in situ hybridization. Tohoku J. Exp. Med. 160, 203–211 (1990).
204. Windpassinger, C. et al. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
205. Hansen, J. J. et al. Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. Am. J. Hum. Genet. 70, 1328–1332 (2002). 206. Reid, E. et al. A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). Am. J. Hum.
207. Rainier, S., Chai, J. H., Tokarz, D., Nicholls, R. D. & Fink, J. K. NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6). Am. J. Hum. Genet. 73, 967–971 (2003). 208. Hazan, J. et al. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nature Genet. 23, 296–303 (1999). 209. O’Neill, B. P., Swanson, J. W., Brown, F. R., Griffin, J. W. & Moser, H. W. Familial spastic paraparesis: an adrenoleukodystrophy phenotype? Neurology 35, 1233–1235 (1985). 210. Simpson, M. A. et al. Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. Am. J. Hum. Genet. 73, 1147–1156 (2003). 211. Casari, G. et al. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93, 973–983 (1998). 212. Touraine, R. L. et al. Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. Am. J. Hum. Genet. 66, 1496–1503 (2000). 213. Jouet, M. et al. X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result in mutations in the L1 gene. Nature Genet. 7, 402–407 (1994).
214. Saugier-Veber, P. et al. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nature Genet. 6, 257–262 (1994). Acknowledgements The authors wish to acknowledge the following for generous support of ALS research: Al-Athel ALS Research Foundation, ALS Association, ALS Therapy Alliance, Angel Fund, Muscular Dystrophy Association, National Institutes of Health (National Institute of Neurological Disorders and Stroke, National Institute on Aging), Pierre L. de Bourgknecht ALS Foundation, Pape Adams Foundation, Project ALS and Spinal Cord Research Foundation.
The authors declare no competing financial interests. DATABASES
Entrez Gene:
http://www.ncbi.nlm.nih.gov/entrez/query. fcgi?db=gene ALS2 | ANG | CASP1 | CASP3 | CASP7 | CASP8 | CASP9 | COX1 | dynactin | EAAT2 | SETX | SOD1 | VAPB | VEGF OMIM: http://www.ncbi.nlm.nih.gov/entrez/query. fcgi?db=OMIM Amyotrophic lateral sclerosis | Huntington’s disease | SMARD FURTHER INFORMATION ALS Online Database: http://www.alsod.org SUPPLEMENTARY INFORMATION See online article: S1 (figure) Access to this links box is available online. R E V I E W S NATURE REVIEWS |
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