A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset, incomplete penetrance and a sensory neuropathy

References

• Cole N, Siddique T. Genetic disorders of motor neurons. Semin Neurol 1999; 19(4): 407–418.
   PubMed Web of Science ®Google Scholar
• Rosen DR, Siddique T, Patterson D et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyo- trophic lateral sclerosis. Nature 1993; 362(6415): 59–62.
   Google Scholar
• Cudkowicz ME, McKenna-Yasek D, Sapp PE et al. Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. Ann Neurol 1997; 41(2): 210–221.
   Google Scholar
• Andersen PM, Nilsson P, Keranen ML et al. Phenotypic heterogeneity in motor neuron disease patients with CuZn- superoxide dismutase mutations in Scandinavia. Brain 1997; 120 (Pt 10): 1723–1737.
   Google Scholar
• Boukaftane Y, Khoris J, Moulard B et al. Identification of six novel SOD1 gene mutations in familial amyotrophic lateral sclerosis. Can J Neurol Sci 1998; 25(3): 192–196.
   Google Scholar
• Orrell RW, Marklund SL, deBelleroche JS. Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser). J Neurol Sci 1997; 153(1): 46–49.
   Google Scholar
• Shaw CE, Enayat ZE, Chioza BA et al. Mutations in all five exons of SOD-1 may cause ALS. Ann Neurol 1998; 43(3): 390–394.
   Google Scholar
• Orrell RW, Figlewicz D. Clinical implications of the genetics of ALS and other motor neuron diseases. Neurology 2001; 57(1): 9–17.
   PubMed Web of Science ®Google Scholar
• Brooks BR, Miller RG, Swash M et al. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 2000; 1(5): 293–299.
   PubMed Web of Science ®Google Scholar
• Jacobsson J, Jonsson PA, Andersen PM et al. Superoxide dismutase in CSF from amyotrophic lateral sclerosis patients with and without CuZn-superoxide dismutase mutations. Brain 2001; 124(Pt 7): 1461–1466.
   Google Scholar
• Gaudette M, Hirano M, Siddique T. Current status of SOD1 mutations in familial amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 2000; 1(2): 83–89.
   PubMed Web of Science ®Google Scholar
• Kikugawa K, Nakano R, Inuzuka T et al. A missense mutation in the SOD1 gene in patients with amyotrophic lateral sclerosis from the Kii Peninsula and its vicinity, Japan. Neurogenetics 1997; 1(2): 113–115.
   Google Scholar
• Murakami T, Warita H, Hayashi T et al. A novel SOD1 gene mutation in familial ALS with low penetrance in females. J Neurol Sci 2001; 189(1–2): 45–47.
   Google Scholar
• Andersen PM. Genetic factors in the early diagnosis of ALS. Amyotroph Lateral Scler Other Motor Neuron Disord 2000; 1 (Suppl 1): S31–42.
   Google Scholar
• Andersen PM. Genetics of sporadic ALS. Amyotroph Lateral Scler Other Motor Neuron Disord 2001; 2 (Suppl 1): S37–41.
   Google Scholar
• Orrell RW, Habgood JJ, Malaspina A et al. Clinical characteristics of SOD1 gene mutations in UK families with ALS. J Neurol Sci 1999; 169(1–2): 56–60.
   Google Scholar
• Juneja T, Pericak-Vance MA, Laing NG et al. Prognosis in familial amyotrophic lateral sclerosis: progression and survival in patients with glu100gly and ala4val mutations in Cu,Zn superoxide dismutase. Neurology 1997; 48(1): 55–57.
   Google Scholar
• Aoki M, Abe K, Houi K et al. Variance of age at onset in a Japanese family with amyotrophic lateral sclerosis associated with a novel Cu/Zn superoxide dismutase mutation. Ann Neurol 1995; 37(5): 676–679.
   Google Scholar
• Ikeda M, Abe K, Aoki M et al. Variable clinical symptoms in familial amyotrophic lateral sclerosis with a novel point mutation in the Cu/Zn superoxide dismutase gene. Neurology 1995; 45(11): 2038–2042.
   Google Scholar
• Hayward C, Brock DJ, Minns RA et al. Homozygosity for Asn86Ser mutation in the CuZn-superoxide dismutase gene produces a severe clinical phenotype in a juvenile onset case of familial amyotrophic lateral sclerosis. J Med Genet 1998; 35 (2):174.
   Google Scholar
• Andersen PM, Forsgren L, Binzer M et al. Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homo- zygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients. Brain 1996; 119 (Pt 4): 1153–1172.
   Google Scholar
• Mulder DW, Kurland LT, Offord KP et al. Familial adult motor neuron disease: amyotrophic lateral sclerosis. Neurology 1986; 36(4): 511–517.
   Google Scholar
• Kawata A, Kato S, Hayashi H et al. Prominent sensory and autonomic disturbances in familial amyotrophic lateral sclerosis with a Gly93Ser mutation in the SOD1 gene. J Neurol Sci 1997; 153(1): 82–85.
   Google Scholar
• Tohgi H, Tsukagoshi H, Toyokura Y. Quantitative changes with age in normal sural nerves. Acta Neuropathol (Berl) 1977; 38(3): 213–220.
   PubMed Web of Science ®Google Scholar
• Bradley WG, Good P, Rasool CG et al. Morphometric and biochemical studies of peripheral nerves in amyotrophic lateral sclerosis. Ann Neurol 1983; 14(3): 267–277.
   Google Scholar
• Dyck PJ, Stevens JC, Mulder DW et al. Frequency of nerve fiber degeneration of peripheral motor and sensory neurons in amyotrophic lateral sclerosis. Morphometry of deep and super- ficial peroneal nerves. Neurology 1975; 25(8): 781–785.
   Google Scholar
• Shefner JM, Tyler HR, Krarup C. Abnormalities in the sensory action potential in patients with amyotrophic lateral sclerosis. Muscle Nerve 1991; 14(12): 1242–1246.
   PubMed Web of Science ®Google Scholar
• Gregory R, Mills K, Donaghy M. Progressive sensory nerve dysfunction in amyotrophic lateral sclerosis: a prospective clinical and neurophysiological study. J Neurol 1993; 240(5): 309–314.
   PubMed Web of Science ®Google Scholar
• Bird TD, Bennett RL. Why do DNA testing? Practical and ethical implications of new neurogenetic tests. Ann Neurol 1995; 38(2): 141–146.
   PubMed Web of Science ®Google Scholar
• Bird TD. Risks and benefits of DNA testing for neurogenetic disorders. Semin Neurol 1999; 19(3): 253–259.
   PubMed Web of Science ®Google Scholar
• Huggins M, Bloch M, Kanani S et al. Ethical and legal dilemmas arising during predictive testing for adult-onset disease. Am J Hum Genet 1990; 47(1): 4–12.
   Google Scholar