Familial amyotrophic lateral sclerosis with rapid progression

Brain and Nerve

Volumn 57, Issue 11, 2005, Pages 1003-1006

  Oyama, Genko ^a   Izawa, Nana ^a   Fujishima, Kenji ^a   Kobayashi, Hirokazu ^a   Mizuno, Yoshikuni ^b   Okuma, Yasuyuki ^a  

^a JUNTENDO UNIVERSITY SHIZUOKA HOSPITAL   (Japan)

^b JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Autosomal dominant (AD); Familial amyotrophic lateral sclerosis (FALS); Lower motor neuron sign; Rapid progression

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE; IMMUNOGLOBULIN; METHYLPREDNISOLONE;

ACTION POTENTIAL; ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; ARTIFICIAL VENTILATION; AUTOSOMAL DOMINANT INHERITANCE; BULBAR PARALYSIS; CASE REPORT; CEREBROSPINAL FLUID; DISEASE COURSE; ELECTROMYOGRAM; ELECTROPHYSIOLOGY; FACE MALFORMATION; GENE MUTATION; HUMAN; MALE; MOTOR NEURON DISEASE; MUSCLE WEAKNESS; NERVE CONDUCTION; PEDIGREE; PLASMAPHERESIS; QUADRIPLEGIA; RESPIRATORY FAILURE; SYMPTOM;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; DISEASE PROGRESSION; ELECTROPHYSIOLOGY; FAMILY HEALTH; FEMALE; HUMANS; MALE; MOTOR NEURONS; PEDIGREE;

EID: 28844484728     PISSN: 00068969     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (11)

1. Aoki M, Abe K, Houi K, Ogasawara M, Matsubara Y, Kobayashi T, Mochio S, Narisawa K, Itoyama Y: Variance of age at onset in a Japanese family with amyotrophic lateral sclerosis associated with a novel Cu/Zn superoxide dismutase mutation. Ann Neurol 37: 676-679, 1995
2. Chance PF, Rabin BA, Ryan SG, Ding Y, Scavina M, Crain B, Griffin JW, Cornblath DR: Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34. Am J Hum Genet 62: 633-640, 1998
3. Cudkowicz ME, McKenna-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 copper/zinc superoxide dismutase gene. Ann Neurol 43: 703-710, 1998
4. Guiloff RJ, McGregor B, Thompson E, Blackwood W, Paul E: Motor neuron disease with elevated cerebrospinal fluid protein. J Neurol Nurosurg Psychiatry 43: 390-396, 1980
5. Hand CK, Khoris J, Salachas F, Gros-Louis F, Lopes A AS, Mayeux-Portas V, Brown RH Jr, Meininger V, Camu W, Rouleau GA: A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q. Am J Hum Genet 70: 251-256, 2002
6. Hentati A, Ouahchi K, Pericak-Vance MA, Nijhawan D, Ahmad A, Yang Y, Rimmler J, Hung W, Schlotter B, Ahmed A, Ben Hamida M, Hentati F, Siddique T: Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers. Neurogenetics 2: 55-60, 1998
7. Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, Donaldson D, Goto J, O'Regan JP, Deng HX: Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362: 59-62, 1993
8. Ruddy DM, Parton MJ, Al-Chalabi A, Lewis CM, Vance C, Smith BN, Leigh PN, Powell JF, Siddique T, Meyjes EP, Baas F, De Jong V, Shaw CE: Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q. Am J Hum Genet 73: 390-396, 2003
9. Sapp PC, Hosler BA, McKenna-Yasek D, Chin W, Gann A, Genise H, Gorenstein J, Huang M, Sailer W, Scheffler M, Valesky M, Haines JL, Pericak-Vance M, Siddique T, Horvitz HR, Brown RH Jr: Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis. Am J Hum Genet 73: 397-403, 2003
10. Siddique T, Figlewicz DA, Pericak Vance MA, Haines JL, Rouleau G, Jeffers Aj, Sapp P, Hung WY, Bebout J, McKenna-Yasek D, et al: Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity. N Engl J Med 324: 1381-1384, 1991