Programa XIII CN Sociedad Española de Neurología

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G.A. Nicholson

sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24. Am J Hum Genet 2003;73(3):632-7. 4. Wright A, Dyck PJ. Hereditary sensory neuropathy with sensorineural deafness and early-onset dementia. Neurology 1995;45(3 Pt 1):560-2. 5. Donaghy M, Hakin RN, Bamford JM, Garner A, Kirkby GR, Noble BA, et al. Hereditary sensory neuropathy with neurotrophic keratitis. Description of an autosomal recessive disorder with a selective reduction of small myelinated nerve fibres and a discussion of the classification of the hereditary sensory neuropathies. Brain 1987;110 (Pt 3):563-83. 6. Hicks EP. Hereditary perforating ulcer of the foot. Lancet 1922; I:319-321. 7. England AC, Denny-Brown D. Severe sensory changes, and trophic disorder, in peroneal muscular atrophy (Charcot-Marie-Tooth type). Arch. of Neurol. and Psychiat. 1952; 67:1-22. 8. Dyck PJ. Inherited neural degeneration and atrophy affecting peripheral motor, sensory and autonomic neurons. In: Dyck PJ, Thomas PK, Lambert EH, editors. Peripheral Neuropathy. Philadelphia: W.B. Saunders.; 1975. p. 825-867. 9. Nicholson GA, Dawkins JL, Blair IP, Kennerson ML, Gordon MJ, Cherryson AK, et al. The gene for hereditary sensory neuropathy type I (HSN-I) maps to chromosome 9q22.1-q22.3. Nat Genet 1996;13(1):101-4. 10. Dawkins JL, Hulme DJ, Brahmbhatt SB, Auer-Grumbach M, Nicholson GA. Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. Nat Genet 2001;27(3):309-12. 11. Nicholson GA, Dawkins JL, Blair IP, Auer-Grumbach M, Brahmbhatt SB, Hulme DJ. Hereditary sensory neuropathy type I: haplotype analysis shows founders in southern England and Europe. Am J Hum Genet 2001;69(3):655-9. 12. Bejaoui K, Uchida Y, Yasuda S, Ho M, Nishijima M, Brown RH, Jr., et al. Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis. J Clin Invest 2002;110(9):1301-8. 13. Dedov VN, Dedova IV, Merrill AH, Jr., Nicholson GA. Activity of partially inhibited serine palmitoyltransferase is sufficient for normal sphingolipid metabolism and viability of HSN1 patient cells. Biochim Biophys Acta 2004;1688(2):168-75. 14. Verhoeven K, Coen K, De Vriendt E, Jacobs A, Van Gerwen V, Smouts I, et al. SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I. Neurology 2004;62(6):1001-2. 15. De Jonghe P, Timmerman V, Ceuterick C, Nelis E, De Vriendt E, Lofgren A, et al. The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. Brain 1999;122(Pt 2):281-90. 16. Vance JM, Speer MC, Stajich JM, West S, Wolpert C, Gaskell P, et al. Misclassification and linkage of hereditary sensory and autonomic neuropathy type 1 as Charcot-Marie-Tooth disease, type 2B. Am J Hum Genet 1996;59(1):258-62. 17. Lafreniere RG, MacDonald ML, Dube MP, MacFarlane J, O'Driscoll M, Brais B, et al. Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates. Am J Hum Genet 2004;74(5):1064-73. 18. Riviere JB, Verlaan DJ, Shekarabi M, Lafreniere RG, Benard M, Der Kaloustian VM, et al. A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family. Ann Neurol 2004;56(4):572-5.

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