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. 1980 Aug;43(8):669–678. doi: 10.1136/jnnp.43.8.669

Autosomal recessive forms of hereditary motor and sensory neuropathy.

A E Harding, P K Thomas
PMCID: PMC490637  PMID: 7431027

Abstract

Six families are described with hereditary motor and sensory neuropathy (HMSN) of probable autosomal recessive inheritance. Four of these were classified as HMSN type I and two as type II. The consanguinity rate in this series was high, suggesting that these recessive genes are rare. In comparison with the dominantly inherited forms of these disorders, the mean age of onset was significantly earlier for the type II cases but did not differ for the type I patients. Motor nerve conduction velocity was significantly less for the type I cases but did not differ for the type II form. The recessive type I cases tended to show a greater incidence of weakness, ataxia, tendon areflexia and scoliosis than in the dominant form. The importance of differentiating such cases from Friedreich's ataxia is emphasised.

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Selected References

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

  1. Beighton P. H. Recessively inherited Charcot-Marie-Tooth syndrome in identical twins. Birth Defects Orig Artic Ser. 1971 Feb;7(2):105–105. [PubMed] [Google Scholar]
  2. Davis C. J., Bradley W. G., Madrid R. The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification. J Genet Hum. 1978 Dec;26(4):311–349. [PubMed] [Google Scholar]
  3. Dyck P. J., Ellefson R. D., Lais A. C., Smith R. C., Taylor W. F., Van Dyke R. A. Histologic and lipid studies of sural nerves in inherited hypertrophic neuropathy: preliminary report of a lipid abnormality in nerve and liver in Dejerine-Sottas disease. Mayo Clin Proc. 1970 Apr;45(4):286–327. [PubMed] [Google Scholar]
  4. Dyck P. J., Lambert E. H. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies. Arch Neurol. 1968 Jun;18(6):603–618. doi: 10.1001/archneur.1968.00470360025002. [DOI] [PubMed] [Google Scholar]
  5. Dyck P. J., Lambert E. H. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations. Arch Neurol. 1968 Jun;18(6):619–625. doi: 10.1001/archneur.1968.00470360041003. [DOI] [PubMed] [Google Scholar]
  6. Dyck P. J., Lambert E. H., Sanders K., O'Brien P. C. Severe hypomyelination and marked abnormality of conduction in Dejerine-Sottas hypertrophic neuropathy: myelin thickness and compound action potential of sural nerve in vitro. Mayo Clin Proc. 1971 Jun;46(6):432–436. [PubMed] [Google Scholar]
  7. Harding A. E., Thomas P. K. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain. 1980 Jun;103(2):259–280. doi: 10.1093/brain/103.2.259. [DOI] [PubMed] [Google Scholar]
  8. Kalyanaraman K., Cancilla P. A., Munsat T., Pearson C. M. Hereditary hypertrophic neuropathy. Report of two cases of an autosomal recessive variant. Bull Los Angeles Neurol Soc. 1970 Apr;35(2):58–68. [PubMed] [Google Scholar]
  9. Kennedy W. R., Sung J. H., Berry J. F. A case of congenital hypomyelination neuropathy. Clinical, morphological, and chemical studies. Arch Neurol. 1977 Jun;34(6):337–345. doi: 10.1001/archneur.1977.00500180031007. [DOI] [PubMed] [Google Scholar]
  10. Killian J. M., Kloepfer H. W. Homozygous expression of a dominant gene for Charcot-Marie-Tooth neuropathy. Ann Neurol. 1979 Jun;5(6):515–522. doi: 10.1002/ana.410050604. [DOI] [PubMed] [Google Scholar]
  11. Lyon G. Ultrastructural study of a nerve biopsy from a case of early infantile chronic neuropathy. Acta Neuropathol. 1969;13(2):131–142. doi: 10.1007/BF00687025. [DOI] [PubMed] [Google Scholar]
  12. Mahloudji M. A recessively inherited mixed polyneuropathy of early onset. J Med Genet. 1969 Dec;6(4):411–412. doi: 10.1136/jmg.6.4.411. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Skre H. Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin Genet. 1974;6(2):98–118. doi: 10.1111/j.1399-0004.1974.tb00638.x. [DOI] [PubMed] [Google Scholar]
  14. Thomas P. K., Calne D. B. Motor nerve conduction velocity in peroneal muscular atrophy: evidence for genetic heterogeneity. J Neurol Neurosurg Psychiatry. 1974 Jan;37(1):68–75. doi: 10.1136/jnnp.37.1.68. [DOI] [PMC free article] [PubMed] [Google Scholar]

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