|
|
||||||||
NEUROLOGY 1986;36:511-517
© 1986 American Academy of Neurology
ARTICLES |
DW Mulder, LT Kurland, KP Offord and CM Beard
We analyzed the medical records of 103 patients with familial adult motor neuron disease (MND). In the 72 families, 329 members were known to be affected. Observations were compared with the sporadic and Mariana forms of MND. Clinical and laboratory examinations of all three forms were similar in clinical course and findings, but there were minor variations in age at onset, sex ratio, survival, and the frequency with which onset occurred in the lower extremities. Recognition of the familial form still depends on diagnosis of the disease in more than one member of a family.
This article has been cited by other articles:
![]() |
S. V. Seetharaman, M. Prudencio, C. Karch, S. P. Holloway, D. R. Borchelt, and P. J. Hart Immature Copper-Zinc Superoxide Dismutase and Familial Amyotrophic Lateral Sclerosis Experimental Biology and Medicine, October 1, 2009; 234(10): 1140 - 1154. [Abstract] [Full Text] [PDF] |
||||
![]() |
J. E. Landers, J. Melki, V. Meininger, J. D. Glass, L. H. van den Berg, M. A. van Es, P. C. Sapp, P. W. J. van Vught, D. M. McKenna-Yasek, H. M. Blauw, et al. Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis PNAS, June 2, 2009; 106(22): 9004 - 9009. [Abstract] [Full Text] [PDF] |
||||
![]() |
F. Fang, U. Valdimarsdottir, R. Bellocco, L.-O. Ronnevi, P. Sparen, K. Fall, and W. Ye Amyotrophic Lateral Sclerosis in Sweden, 1991-2005 Arch Neurol, April 1, 2009; 66(4): 515 - 519. [Abstract] [Full Text] [PDF] |
||||
![]() |
F. Gros-Louis, J. Kriz, E. Kabashi, J. McDearmid, S. Millecamps, M. Urushitani, L. Lin, P. Dion, Q. Zhu, P. Drapeau, et al. Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish Hum. Mol. Genet., September 1, 2008; 17(17): 2691 - 2702. [Abstract] [Full Text] [PDF] |
||||
![]() |
J. E. Landers, A. L. Leclerc, L. Shi, A. Virkud, T. Cho, M. M. Maxwell, A. F. Henry, M. Polak, J. D. Glass, T. J. Kwiatkowski, et al. New VAPB deletion variant and exclusion of VAPB mutations in familial ALS Neurology, April 1, 2008; 70(14): 1179 - 1185. [Abstract] [Full Text] [PDF] |
||||
![]() |
G. Goldsteins, V. Keksa-Goldsteine, T. Ahtoniemi, M. Jaronen, E. Arens, K. Akerman, P. H. Chan, and J. Koistinaho Deleterious Role of Superoxide Dismutase in the Mitochondrial Intermembrane Space J. Biol. Chem., March 28, 2008; 283(13): 8446 - 8452. [Abstract] [Full Text] [PDF] |
||||
![]() |
Y. Chang, M. P. Stockinger, H. Tashiro, and C.-l. G. Lin A novel noncoding RNA rescues mutant SOD1-mediated cell death FASEB J, March 1, 2008; 22(3): 691 - 702. [Abstract] [Full Text] [PDF] |
||||
![]() |
J. D Isaacs, A. F Dean, C. E Shaw, A. Al-Chalabi, K. R Mills, and P N. Leigh Amyotrophic lateral sclerosis with sensory neuropathy: part of a multisystem disorder? J. Neurol. Neurosurg. Psychiatry, July 1, 2007; 78(7): 750 - 753. [Abstract] [Full Text] [PDF] |
||||
![]() |
T. Ahtoniemi, G. Goldsteins, V. Keksa-Goldsteine, T. Malm, K. Kanninen, A. Salminen, and J. Koistinaho Pyrrolidine Dithiocarbamate Inhibits Induction of Immunoproteasome and Decreases Survival in a Rat Model of Amyotrophic Lateral Sclerosis Mol. Pharmacol., January 1, 2007; 71(1): 30 - 37. [Abstract] [Full Text] [PDF] |
||||
![]() |
C. S. Lobsiger, M. L. Garcia, C. M. Ward, and D. W. Cleveland Altered axonal architecture by removal of the heavily phosphorylated neurofilament tail domains strongly slows superoxide dismutase 1 mutant-mediated ALS PNAS, July 19, 2005; 102(29): 10351 - 10356. [Abstract] [Full Text] [PDF] |
||||
![]() |
F. Gros-Louis, R. Lariviere, G. Gowing, S. Laurent, W. Camu, J.-P. Bouchard, V. Meininger, G. A. Rouleau, and J.-P. Julien A Frameshift Deletion in Peripherin Gene Associated with Amyotrophic Lateral Sclerosis J. Biol. Chem., October 29, 2004; 279(44): 45951 - 45956. [Abstract] [Full Text] [PDF] |
||||
![]() |
W. A. Nix, M. M. Berger, M. S. Oberste, B. R. Brooks, D. M. McKenna-Yasek, R. H. Brown Jr., R. P. Roos, and M. A. Pallansch Failure to detect enterovirus in the spinal cord of ALS patients using a sensitive RT-PCR method Neurology, April 27, 2004; 62(8): 1372 - 1377. [Abstract] [Full Text] [PDF] |
||||
![]() |
R. Rakhit, J. P. Crow, J. R. Lepock, L. H. Kondejewski, N. R. Cashman, and A. Chakrabartty Monomeric Cu,Zn-superoxide Dismutase Is a Common Misfolding Intermediate in the Oxidation Models of Sporadic and Familial Amyotrophic Lateral Sclerosis J. Biol. Chem., April 9, 2004; 279(15): 15499 - 15504. [Abstract] [Full Text] [PDF] |
||||
![]() |
M. M. Maxwell, P. Pasinelli, A. G. Kazantsev, and R. H. Brown Jr. RNA interference-mediated silencing of mutant superoxide dismutase rescues cyclosporin A-induced death in cultured neuroblastoma cells PNAS, March 2, 2004; 101(9): 3178 - 3183. [Abstract] [Full Text] [PDF] |
||||
![]() |
J. Corcoran, P. L. So, and M. Maden Absence of retinoids can induce motoneuron disease in the adult rat and a retinoid defect is present in motoneuron disease patients J. Cell Sci., March 14, 2003; 115(24): 4735 - 4741. [Abstract] [Full Text] [PDF] |
||||
![]() |
M. Nagai, M. Aoki, I. Miyoshi, M. Kato, P. Pasinelli, N. Kasai, R. H. Brown Jr, and Y. Itoyama Rats Expressing Human Cytosolic Copper-Zinc Superoxide Dismutase Transgenes with Amyotrophic Lateral Sclerosis: Associated Mutations Develop Motor Neuron Disease J. Neurosci., December 1, 2001; 21(23): 9246 - 9254. [Abstract] [Full Text] [PDF] |
||||
![]() |
H. R. Morris, S. Al-Sarraj, C. Schwab, K. Gwinn-Hardy, J. Perez-Tur, N. W. Wood, J. Hardy, A. J. Lees, P. L. McGeer, S. E. Daniel, et al. A clinical and pathological study of motor neurone disease on Guam Brain, November 1, 2001; 124(11): 2215 - 2222. [Abstract] [Full Text] [PDF] |
||||
![]() |
T. Oeda, S. Shimohama, N. Kitagawa, R. Kohno, T. Imura, H. Shibasaki, and N. Ishii Oxidative stress causes abnormal accumulation of familial amyotrophic lateral sclerosis-related mutant SOD1 in transgenic Caenorhabditis elegans Hum. Mol. Genet., September 1, 2001; 10(19): 2013 - 2023. [Abstract] [Full Text] [PDF] |
||||
![]() |
A. Pramatarova, J. Laganiere, J. Roussel, K. Brisebois, and G. A. Rouleau Neuron-Specific Expression of Mutant Superoxide Dismutase 1 in Transgenic Mice Does Not Lead to Motor Impairment J. Neurosci., May 15, 2001; 21(10): 3369 - 3374. [Abstract] [Full Text] [PDF] |
||||
![]() |
B. A. Hosler, T. Siddique, P. C. Sapp, W. Sailor, M. C. Huang, A. Hossain, J. R. Daube, M. Nance, C. Fan, J. Kaplan, et al. Linkage of Familial Amyotrophic Lateral Sclerosis With Frontotemporal Dementia to Chromosome 9q21-q22 JAMA, October 4, 2000; 284(13): 1664 - 1669. [Abstract] [Full Text] [PDF] |
||||
![]() |
M. M. Berger, N. Kopp, C. Vital, B. Redl, M. Aymard, and B. Lina Detection and cellular localization of enterovirus RNA sequences in spinal cord of patients with ALS Neurology, January 11, 2000; 54(1): 20 - 20. [Abstract] [Full Text] [PDF] |
||||
![]() |
S. Penco, A. Schenone, D. Bordo, M. Bolognesi, M. Abbruzzese, O. Bugiani, F. Ajmar, and C. Garre A SOD1 gene mutation in a patient with slowly progressing familial ALS Neurology, July 1, 1999; 53(2): 404 - 404. [Abstract] [Full Text] |
||||
![]() |
J. B. Martin Molecular Basis of the Neurodegenerative Disorders N. Engl. J. Med., June 24, 1999; 340(25): 1970 - 1980. [Full Text] [PDF] |
||||
![]() |
J. Kong and Z. Xu Massive Mitochondrial Degeneration in Motor Neurons Triggers the Onset of Amyotrophic Lateral Sclerosis in Mice Expressing a Mutant SOD1 J. Neurosci., May 1, 1998; 18(9): 3241 - 3250. [Abstract] [Full Text] [PDF] |
||||
![]() |
R. H. Brown Jr Amyotrophic Lateral Sclerosis: Insights From Genetics Arch Neurol, October 1, 1997; 54(10): 1246 - 1250. [Abstract] [PDF] |
||||
![]() |
A. I. Qureshi, G. Wilmot, B. Dihenia, J. A. Schneider, and D. A. Krendel Motor Neuron Disease With Parkinsonism Arch Neurol, October 1, 1996; 53(10): 987 - 991. [Abstract] [PDF] |
||||
![]() |
T. Siddique ALS: Molecular Clues to the Jigsaw Puzzle of Neuronal Degeneration Cold Spring Harb Symp Quant Biol, January 1, 1996; 61(0): 699 - 708. [Abstract] [PDF] |
||||
![]() |
D. R. Borchelt, M. Guarnieri, P. C. Wong, M. K. Lee, H. S. Slunt, Z.-S. Xu, S. S. Sisodia, D. L. Price, and D. W. Cleveland Superoxide Dismutase 1 Subunits with Mutations Linked to Familial Amyotrophic Lateral Sclerosis Do Not Affect Wild-type Subunit Function J. Biol. Chem., February 17, 1995; 270(7): 3234 - 3238. [Abstract] [Full Text] [PDF] |
||||
![]() |
H. Deng, A Hentati, J. Tainer, Z Iqbal, A Cayabyab, W. Hung, E. Getzoff, P Hu, B Herzfeldt, R. Roos, et al. Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase Science, August 20, 1993; 261(5124): 1047 - 1051. [Abstract] [PDF] |
||||
![]() |
C. S. Payne and A. D. Roses The Molecular Genetic Revolution: Its Impact on Clinical Neurology Arch Neurol, December 1, 1988; 45(12): 1366 - 1376. [Abstract] [PDF] |
||||
![]() |
H. Mitsumoto, M. R. Hanson, and D. A. Chad Amyotrophic Lateral Sclerosis: Recent Advances in Pathogenesis and Therapeutic Trials Arch Neurol, February 1, 1988; 45(2): 189 - 202. [Abstract] [PDF] |
||||
| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |