Familial amyotrophic lateral sclerosis with a novel G85S mutation of superoxide dismutase 1 gene: Clinical features of lower motor neuron disease

Internal Medicine

Volumn 49, Issue 2, 2010, Pages 183-186

  Takazawa, Takanori ^a   Ikeda, Ken ^a   Hirayama, Takehisa ^a   Kawabe, Kiyokazu ^a   Nakamura, Yoshikazu ^a   Ito, Hirono ^a   Kano, Osamu ^a   Yoshii, Yasuhiro ^a   Tanaka, Fumiaki ^b   Sobue, Gen ^b   Iwasaki, Yasuo ^a  

^a TOHO UNIVERSITY OMORI MEDICAL CENTER   (Japan)

^b NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Amyotrophic lateral sclerosis; Cu Zn superoxide dismutase; G85S mutation; Lower motor neuron disease

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE;

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; BABINSKI REFLEX; CASE REPORT; COGNITION; ELECTROMYOGRAPHY; FEMALE; GENE MUTATION; HUMAN; MOTOR NEURON DISEASE; MUSCLE POTENTIAL; NEUROLOGIC EXAMINATION; PNEUMONIA; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; TRACHEOSTOMY;

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; FATAL OUTCOME; FEMALE; GLYCINE; HUMANS; MALE; MOTOR NEURON DISEASE; MUTATION; PEDIGREE; SERINE; SUPEROXIDE DISMUTASE;

EID: 75749088593     PISSN: 09182918     EISSN: 13497235     Source Type: Journal    
DOI: 10.2169/internalmedicine.49.2720     Document Type: Article

References (15)

1. Beleza-Meireles A, Al-Chalabi A. Genetic studies of amyotrophic lateral sclerosis: controversies and perspectives. Amyotroph Lateral Scler 10: 1-14, 2009.
2. Rosen DR, Siddique T, Patterson D, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362: 59-62, 1993.
3. Aoki M, Ogasawara M, Matsubara Y, et al. Familial amyotrophic lateral sclerosis (ALS) in Japan associated with H46R mutation in Cu/Zn superoxide dismutase gene: a possible new subtype of familial ALS. J Neurol Sci 126: 77-83, 1994.
4. 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 45: 2038-2042, 1995.
5. Abe K, Aoki M, Ikeda M, Watanabe M, Hirai S, Itoyama Y. Clinical characteristics of familial amyotrophic lateral sclerosis with Cu/Zn superoxide dismutase gene mutations. J Neurol Sci 136: 108-116, 1996.
6. Kohno S, Takahashi Y, Miyajima H, Serizawa M, Mizoguchi K. A novel mutation (Cys6Gly) in the Cu/Zn superoxide dismutase gene associated with rapidly progressive familial amyotrophic lateral sclerosis. Neurosci Lett 276: 135-137, 1999.
7. Suzuki M, Irie T, Watanabe T, et al. Familial amyotrophic lateral sclerosis with Gly93Ser mutation in Cu/Zn superoxide dismutase: a clinical and neuropathological study. J Neurol Sci 268: 140-144, 2008.
8. Watanabe M, Aoki M, Abe K, et al. A novel missense point mutation (S134N) of the Cu/Zn superoxide dismutase gene in a patient with familal motor neuron disease. Hum Mutat 9: 69-71, 1997.
9. Paillisse C, Lacomblez I, Dib M, Bensimon G, Garcia-Acosta S, Meininger V. Prognostic factors for survival in amyotrophic lateral sclerosis patients treated with riluzole. Amyotroph Lateral Scler Other Motor Neuron Disord 6: 37-44, 2005.
10. Anderson PM, Nilsson P, Ker??nen ML. Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia. Brain 120: 1723-1737, 1997.
11. Radunovic P, Leigh PN. Cu/Zn superoxide dismutase gene mutations in amyotrophic lateral sclerosis: correlation between genotype and clinical features. J Neurol Neurosurg Psychiatry 61: 565-572, 1996.
12. Enayat ZE, Orrell RW, Claus A, et al. Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis. Hum Mol Genet 7: 1239-1240, 1995.
13. Juneja T, Pericak-Vance MA, Laing NG, Dave S, Siddique T. Prognosis of familial amyotrophic lateral sclerosis: progression and survival in patients with glu100gly and ala4val mutations in Cu,Zn superoxide dismutase. Neurology 48: 55-57, 1997.
14. Cudkowicz ME, MaKenna-Yasek D, Chen C, Hedley-Whyte ET, Brown RH Jr. Limited corticospinal tract involvement in amyotrophic lateral sclerosis subjects with the A4V mutation in the Cu/Zn superoxide dismutase gene. Ann Neurol 43: 703-710, 1998.
15. Miller RG, Munsat TL, Swash M, Brooks BR. Consensus guideline for the design and implementation of clinical trials in ALS. J Neurol Sci 169: 2-12, 1999.