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. 1991 Nov;54(11):993–996. doi: 10.1136/jnnp.54.11.993

Lower motor neuron degeneration and familial predisposition to colonic neoplasia in two adult siblings.

P J Shaw 1, P G Ince 1, J Slade 1, J Burn 1, N E Cartlidge 1
PMCID: PMC1014623  PMID: 1800672

Abstract

A previously unreported association between a familial predisposition to colonic neoplasia and familial adult onset lower motor neuron (LMN) degeneration is reported. Two brothers presented at the ages of 53 and 44 years with multiple colonic adenomata and invasive colonic carcinoma respectively. Subsequently both developed a virtually identical pattern of motor neuron disease of progressive muscular atrophy type. At presentation both had LMN weakness affecting predominantly the upper limb and neck muscles. The disease progressed rapidly to involve the lower limb and bulbar musculature and both brothers died after a 15 month course. Necropsy was performed on one brother and showed pathological changes confined to the LMNs with no evidence of involvement of the pyramidal tracts or motor cortex. The combination of these diseases in two brothers may be of importance in the search for genes responsible for familial motor neuron disorders. It is suggested that a genomic search should be directed initially to the vicinity of known colon neoplasia genes, particularly 5q, 17q and 18q.

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Selected References

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  1. Bowman B. M., Wildrick D. M., Alfaro S. R. Chromosome 18 allele loss at the D18S6 locus in human colorectal carcinomas. Biochem Biophys Res Commun. 1988 Aug 30;155(1):463–469. doi: 10.1016/s0006-291x(88)81109-4. [DOI] [PubMed] [Google Scholar]
  2. Brain L., Croft P. B., Wilkinson M. Motor neurone disease as a manifestation of neoplasm (with a note on the course of classical motor neurone disease). Brain. 1965 Sep;88(3):479–500. doi: 10.1093/brain/88.3.479. [DOI] [PubMed] [Google Scholar]
  3. Brzustowicz L. M., Lehner T., Castilla L. H., Penchaszadeh G. K., Wilhelmsen K. C., Daniels R., Davies K. E., Leppert M., Ziter F., Wood D. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature. 1990 Apr 5;344(6266):540–541. doi: 10.1038/344540a0. [DOI] [PubMed] [Google Scholar]
  4. Fischbeck K. H., Ionasescu V., Ritter A. W., Ionasescu R., Davies K., Ball S., Bosch P., Burns T., Hausmanowa-Petrusewicz I., Borkowska J. Localization of the gene for X-linked spinal muscular atrophy. Neurology. 1986 Dec;36(12):1595–1598. doi: 10.1212/wnl.36.12.1595. [DOI] [PubMed] [Google Scholar]
  5. Gilliam T. C., Brzustowicz L. M., Castilla L. H., Lehner T., Penchaszadeh G. K., Daniels R. J., Byth B. C., Knowles J., Hislop J. E., Shapira Y. Genetic homogeneity between acute and chronic forms of spinal muscular atrophy. Nature. 1990 Jun 28;345(6278):823–825. doi: 10.1038/345823a0. [DOI] [PubMed] [Google Scholar]
  6. Herrera L., Kakati S., Gibas L., Pietrzak E., Sandberg A. A. Gardner syndrome in a man with an interstitial deletion of 5q. Am J Med Genet. 1986 Nov;25(3):473–476. doi: 10.1002/ajmg.1320250309. [DOI] [PubMed] [Google Scholar]
  7. Hockey K. A., Mulcahy M. T., Montgomery P., Levitt S. Deletion of chromosome 5q and familial adenomatous polyposis. J Med Genet. 1989 Jan;26(1):61–62. doi: 10.1136/jmg.26.1.61. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Horton W. A., Eldridge R., Brody J. A. Familial motor neuron disease. Evidence for at least three different types. Neurology. 1976 May;26(5):460–465. doi: 10.1212/wnl.26.5.460. [DOI] [PubMed] [Google Scholar]
  9. KURLAND L. T., MULDER D. W. Epidemiologic investigations of amyotrophic lateral sclerosis. 2. Familial aggregations indicative of dominant inheritance. II. Neurology. 1955 Apr;5(4):249–268. doi: 10.1212/wnl.5.4.249. [DOI] [PubMed] [Google Scholar]
  10. LAWYER T., Jr, NETSKY M. G. Amyotrophic lateral sclerosis. AMA Arch Neurol Psychiatry. 1953 Feb;69(2):171–192. doi: 10.1001/archneurpsyc.1953.02320260029002. [DOI] [PubMed] [Google Scholar]
  11. Leigh P. N., Whitwell H., Garofalo O., Buller J., Swash M., Martin J. E., Gallo J. M., Weller R. O., Anderton B. H. Ubiquitin-immunoreactive intraneuronal inclusions in amyotrophic lateral sclerosis. Morphology, distribution, and specificity. Brain. 1991 Apr;114(Pt 2):775–788. doi: 10.1093/brain/114.2.775. [DOI] [PubMed] [Google Scholar]
  12. Leppert M., Burt R., Hughes J. P., Samowitz W., Nakamura Y., Woodward S., Gardner E., Lalouel J. M., White R. Genetic analysis of an inherited predisposition to colon cancer in a family with a variable number of adenomatous polyps. N Engl J Med. 1990 Mar 29;322(13):904–908. doi: 10.1056/NEJM199003293221306. [DOI] [PubMed] [Google Scholar]
  13. Melki J., Abdelhak S., Sheth P., Bachelot M. F., Burlet P., Marcadet A., Aicardi J., Barois A., Carriere J. P., Fardeau M. Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature. 1990 Apr 19;344(6268):767–768. doi: 10.1038/344767a0. [DOI] [PubMed] [Google Scholar]
  14. Mulder D. W., Kurland L. T., Offord K. P., Beard C. M. Familial adult motor neuron disease: amyotrophic lateral sclerosis. Neurology. 1986 Apr;36(4):511–517. doi: 10.1212/wnl.36.4.511. [DOI] [PubMed] [Google Scholar]
  15. Nakamura Y., Lathrop M., Leppert M., Dobbs M., Wasmuth J., Wolff E., Carlson M., Fujimoto E., Krapcho K., Sears T. Localization of the genetic defect in familial adenomatous polyposis within a small region of chromosome 5. Am J Hum Genet. 1988 Nov;43(5):638–644. [PMC free article] [PubMed] [Google Scholar]
  16. Siddique T., Pericak-Vance M. A., Brooks B. R., Roos R. P., Hung W. Y., Antel J. P., Munsat T. L., Phillips K., Warner K., Speer M. Linkage analysis in familial amyotrophic lateral sclerosis. Neurology. 1989 Jul;39(7):919–925. doi: 10.1212/wnl.39.7.919. [DOI] [PubMed] [Google Scholar]
  17. Solomon E. Molecular genetics. Colorectal cancer genes. Nature. 1990 Feb 1;343(6257):412–414. doi: 10.1038/343412a0. [DOI] [PubMed] [Google Scholar]
  18. Solomon E., Voss R., Hall V., Bodmer W. F., Jass J. R., Jeffreys A. J., Lucibello F. C., Patel I., Rider S. H. Chromosome 5 allele loss in human colorectal carcinomas. Nature. 1987 Aug 13;328(6131):616–619. doi: 10.1038/328616a0. [DOI] [PubMed] [Google Scholar]
  19. Vogelstein B., Fearon E. R., Kern S. E., Hamilton S. R., Preisinger A. C., Nakamura Y., White R. Allelotype of colorectal carcinomas. Science. 1989 Apr 14;244(4901):207–211. doi: 10.1126/science.2565047. [DOI] [PubMed] [Google Scholar]
  20. Williams D. B., Floate D. A., Leicester J. Familial motor neuron disease: differing penetrance in large pedigrees. J Neurol Sci. 1988 Sep;86(2-3):215–230. doi: 10.1016/0022-510x(88)90100-1. [DOI] [PubMed] [Google Scholar]

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