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Original Article

Hereditary primary lateral sclerosis with cone dysfunction

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Pages 221-226 | Received 29 Mar 2010, Accepted 11 Aug 2010, Published online: 11 Nov 2010

REFERENCES

  • Lerman-Sagie T, Filiano J, Smith DW, et al. M. Infantile onset of hereditary ascending spastic paralysis with bulbar involvement. J Child Neurol 1996;11:54–7.
  • Le Forestier N, Maisonobe T, Spelle L, et al. Primary lateral sclerosis: further clarification. J Neurol Sci 2001;185:95–100.
  • Gastaut JL, Michel B, Figarella-Branger D, et al. Chronic progressive spinobulbar spasticity. A rare form of primary lateral sclerosis. Arch Neurol 1988;45:509–13.
  • Hudson AJ, Kiernan JA, Munoz DG, et al. Clinicopathological features of primary lateral sclerosis are different from amyotrophic lateral sclerosis. Brain Res Bull 1993;30:359–64.
  • Tartaglia MC, Rowe A, Findlater K, et al. Differentiation between primary lateral sclerosis and amyotrophic lateral sclerosis: examination of symptoms and signs at disease onset and during follow-up. Arch Neurol 2007;64:232–6.
  • Pringle CE, Hudson AJ, Munoz DG, et al. Primary lateral sclerosis. Clinical features, neuropathology and diagnostic criteria. Brain 1992;115 ( Pt 2):495–520.
  • Le Forestier N, Maisonobe T, Piquard A, et al. Does primary lateral sclerosis exist? A study of 20 patients and a review of the literature. Brain 2001;124:1989–99.
  • Younger DS, Chou S, Hays AP, et al. Primary lateral sclerosis. A clinical diagnosis reemerges. Arch Neurol 1988;45:1304–7.
  • Gascon GG, Chavis P, Yaghmour A, et al. Familial childhood primary lateral sclerosis with associated gaze paresis. Neuropediatrics 1995;26:313–9.
  • Kriss A TD. Visual electrophysiology. In: Taylor D, ed. Paediatric ophthalmology, 2nd ed. ed. Oxford; Cambridge, Mass.: Blackwell Science, 1996.
  • Berson EL, Sandberg MA, Rosner B, et al. Color plates to help identify patients with blue cone monochromatism. Am J Ophthalmol 1983;95:741–7.
  • Haegerstrom-Portnoy G, Schneck ME, Verdon WA, et al. Clinical vision characteristics of the congenital achromatopsias. I. Visual acuity, refractive error, and binocular status. Optom Vis Sci 1996;73:446–56.
  • Dupre N, Valdmanis PN, Bouchard JP, et al. Autosomal dominant primary lateral sclerosis. Neurology 2007;68:1156–7.
  • Otomo A, Hadano S, Okada T, et al. ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics. Hum Mol Genet 2003;12:1671–87.
  • Yang Y, Hentati A, Deng HX, et al. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet 2001;29:160–5.
  • Panzeri C, De Palma C, Martinuzzi A, et al. The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function. Brain 2006;129:1710–9.
  • Kolb H. Anatomical pathways for color vision in the human retina. Vis Neurosci 1991;7:61–74.
  • Audo I, Michaelides M, Robson AG, et al. Phenotypic variation in enhanced S-cone syndrome. Invest Ophthalmol Vis Sci 2008;49:2082–93.
  • Ayyagari R, Kakuk LE, Bingham EL, et al. Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy. Hum Genet 2000;107:75–82.
  • Kanai K, Kuwabara S, Misawa S, et al. Altered axonal excitability properties in amyotrophic lateral sclerosis: impaired potassium channel function related to disease stage. Brain 2006;129:953–62.
  • Waters MF, Minassian NA, Stevanin G, et al. Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. Nat Genet 2006;38:447–51.
  • Wissinger B, Dangel S, Jagle H, et al. Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2. Invest Ophthalmol Vis Sci 2008;49:751–7.
  • Kaiser M, Maletzki I, Hulsmann S, et al. Progressive loss of a glial potassium channel (KCNJ10) in the spinal cord of the SOD1 (G93A) transgenic mouse model of amyotrophic lateral sclerosis. J Neurochem 2006;99:900–12.
  • Thierry-Mieg D, Thierry-Mieg J. AceView: a comprehensive cDNA-supported gene and transcripts annotation. Genome Biol 2006;7 Suppl 1:S121–4.
  • Lai C, Xie C, McCormack SG, et al. Amyotrophic lateral sclerosis 2-deficiency leads to neuronal degeneration in amyotrophic lateral sclerosis through altered AMPA receptor trafficking. J Neurosci 2006;26:11798–806.
  • Lai C, Xie C, Shim H, et al. Regulation of endosomal motility and degradation by amyotrophic lateral sclerosis 2/alsin. Mol Brain 2009;2:23.
  • Shimizu H, Kawamura S, Ozaki K. An essential role of Rab5 in uniformity of synaptic vesicle size. J Cell Sci 2003;116:3583–90.

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