Skip to main content
NCBI home page
Journal of Neurology, Neurosurgery, and Psychiatry logoLink to Journal of Neurology, Neurosurgery, and Psychiatry
. 1983 Jul;46(7):671–674. doi: 10.1136/jnnp.46.7.671

Familial spastic paraplegia with Kallmann's syndrome.

R R Tuck, B P O'Neill, H Gharib, D W Mulder
PMCID: PMC1027491  PMID: 6604133

Abstract

A sibship is reported in which two males have spastic paraparesis and Kallmann's syndrome (hypogonadotrophic hypogonadism and anosmia). One of the brothers also is color blind. The association of familial spastic paraplegia and Kallmann's syndrome has not been described previously.

Full text

PDF
671

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. ALAJOUANINE T., NICK J. Paraplégie spasmodique familiale avec troubles cérébelleux et paralysie verticale du regard (présentation de deux frères). Rev Neurol (Paris) 1951 Feb;84(2):182–185. [PubMed] [Google Scholar]
  2. Abid F., Hall R., Hudgson P., Weiser R. Moebius syndrome, peripheral neuropathy and hypogonadotrophic hypogonadism. J Neurol Sci. 1978 Feb;35(2-3):309–315. doi: 10.1016/0022-510x(78)90011-4. [DOI] [PubMed] [Google Scholar]
  3. BLUMEL J., EVANS E. B., EGGERS G. W. Hereditary cerebral palsy; a preliminary report. J Pediatr. 1957 Apr;50(4):454–458. doi: 10.1016/s0022-3476(57)80255-8. [DOI] [PubMed] [Google Scholar]
  4. Baar H. S., Gabriel A. M. Sex-linked spastic paraplegia. Am J Ment Defic. 1966 Jul;71(1):13–18. [PubMed] [Google Scholar]
  5. Bardin C. W. Hypogonadotropic hypogonadism in patients with multiple congenital defects. Birth Defects Orig Artic Ser. 1971 May;7(6):175–178. [PubMed] [Google Scholar]
  6. Bardin C. W., Ross G. T., Rifkind A. B., Cargille C. M., Lipsett M. B. Studies of the pituitary-Leydig cell axis in young men with hypogonadotropic hypogonadism and hyposmia: comparison with normal men, prepuberal boys, and hypopituitary patients. J Clin Invest. 1969 Nov;48(11):2046–2056. doi: 10.1172/JCI106170. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Boucher B. J., Gibberd F. B. Familial ataxia, hypogonadism and retinal degeneration. Acta Neurol Scand. 1969;45(4):507–510. [PubMed] [Google Scholar]
  8. Carton H., Gybels J., Brucher J. M. Ocular myopathy with pre-pubertal functional castration syndrome. Acta Neurol Psychiatr Belg. 1969 Apr;69(4):265–271. [PubMed] [Google Scholar]
  9. Conrad B., Kriebel J., Hetzel W. D. Hereditary bimanual synkinesis combined with hypogonadotropic hypogonadism and anosmia in four brothers. J Neurol. 1978 Aug 25;218(4):263–274. doi: 10.1007/BF00312882. [DOI] [PubMed] [Google Scholar]
  10. DE MORSIER G., GAUTHIER G. LA DYSPLASIE OLFACTO-G'ENITALE. Pathol Biol. 1963 Nov;11:1267–1272. [PubMed] [Google Scholar]
  11. Harding A. E. Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families. J Neurol Neurosurg Psychiatry. 1981 Oct;44(10):871–883. doi: 10.1136/jnnp.44.10.871. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. KEMP N. H., STAFFORD J. L., TANNER R. K. Acute leukaemia and Klinefelter's syndrome. Lancet. 1961 Aug 19;2(7199):434–435. doi: 10.1016/s0140-6736(61)92520-x. [DOI] [PubMed] [Google Scholar]
  13. Lowenthal A., Bekaert J., Van Dessel F., van Hauwaert J. Familial cerebellar ataxia with hypogonadism. J Neurol. 1979;222(2):75–80. doi: 10.1007/BF00313001. [DOI] [PubMed] [Google Scholar]
  14. Maldonado R. R., Tamayo L., Carnevale A. Neuroichthyosis with hypogonadism (Rud's syndrome). Int J Dermatol. 1975 Jun;14(5):347–352. doi: 10.1111/j.1365-4362.1975.tb00124.x. [DOI] [PubMed] [Google Scholar]
  15. Males J. L., Townsend J. L., Schneider R. A. Hypogonadotropic hypogonadism with anosmia--Kallmann's syndrome. A disorder of olfactory and hypothalamic function. Arch Intern Med. 1973 Apr;131(4):501–507. doi: 10.1001/archinte.131.4.501. [DOI] [PubMed] [Google Scholar]
  16. McLeod J. G., Morgan J. A., Reye C. Electrophysiological studies in familial spastic paraplegia. J Neurol Neurosurg Psychiatry. 1977 Jun;40(6):611–615. doi: 10.1136/jnnp.40.6.611. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Merriam G. R., Beitins I. Z., Bode H. H. Father-to-son transmission of hypogonadism with anosmia: Kallmann's syndrome. Am J Dis Child. 1977 Nov;131(11):1216–1219. doi: 10.1001/archpedi.1977.02120240034007. [DOI] [PubMed] [Google Scholar]
  18. NOWAKOWSKI H., LENZ W. Genetic aspects in male hypogonadism. Recent Prog Horm Res. 1961;17:53–95. [PubMed] [Google Scholar]
  19. Neuhäuser G., Opitz J. M. Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism. Clin Genet. 1975 May-Jun;7(5):426–434. doi: 10.1111/j.1399-0004.1975.tb00353.x. [DOI] [PubMed] [Google Scholar]
  20. Olson W. H., Bardin C. W., Walsh G. O., Engel W. K. Moebius syndrome. Lower motor neuron involvement and hypogonadotrophic hypogonadism. Neurology. 1970 Oct;20(10):1002–1008. doi: 10.1212/wnl.20.10.1002. [DOI] [PubMed] [Google Scholar]
  21. Rubinstein A. E., Lovelace R. E., Behrens M. M., Weisberg L. A. Moebius syndrome in Kallmann syndrome. Arch Neurol. 1975 Jul;32(7):480–482. doi: 10.1001/archneur.1975.00490490084010. [DOI] [PubMed] [Google Scholar]
  22. Santen R. J., Paulsen C. A. Hypogonadotropic eunuchoidism. I. Clinical study of the mode of inheritance. J Clin Endocrinol Metab. 1973 Jan;36(1):47–54. doi: 10.1210/jcem-36-1-47. [DOI] [PubMed] [Google Scholar]
  23. Sparkes R. S., Simpson R. W., Paulsen C. A. Familial hypogonadotropic hypogonadism with anosmia. Arch Intern Med. 1968 Jun;121(6):534–538. [PubMed] [Google Scholar]
  24. Thurmon T. F., Walker B. A., Scott C. I., Abbott M. H. Two kindreds with a sex-linked recessive form of spastic paraplegia. Birth Defects Orig Artic Ser. 1971 Feb;7(1):219–221. [PubMed] [Google Scholar]
  25. VOLPE R., METZLER W. S., JOHNSTON M. W. Familial hypogonadotrophic eunuchoidism with cerebellar ataxia. J Clin Endocrinol Metab. 1963 Jan;23:107–115. doi: 10.1210/jcem-23-1-107. [DOI] [PubMed] [Google Scholar]
  26. Zatz M., Penha-Serrano C., Otto P. A. X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg. J Med Genet. 1976 Jun;13(3):217–222. doi: 10.1136/jmg.13.3.217. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from Journal of Neurology, Neurosurgery, and Psychiatry are provided here courtesy of BMJ Publishing Group

RESOURCES