Intrafamilial heterogeneity in hereditary motor neuron disease

J. S. Appelbaum, R. P. Roos, E. F. Salazar-Grueso, A. Buchman, S. Iannaccone, R. Glantz, T. Siddique, Ricardo A Maselli

Research output: Contribution to journalArticle

39 Citations (Scopus)

Abstract

Although there are varied inheritance patterns in motor neuron disease (MND), the phenotype of MND is reported to be constant within these families, ie, cases of amyotrophic lateral sclerosis or primary lateral sclero-sis do not occur in pedigrees with cases of spinal muscular atrophy. We describe four pedigrees whose members diverged in the phenotype of MND expressed. The intrafamilial variation of phenotype suggests a similar pathogenesis for some of the varied types of familial MND and the need for careful inquiry of family history in all patients with MND.

Original languageEnglish (US)
Pages (from-to)1488-1492
Number of pages5
JournalNeurology
Volume42
Issue number8
StatePublished - 1992

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Motor Neuron Disease
Pedigree
Phenotype
Spinal Muscular Atrophy
Inheritance Patterns
Amyotrophic Lateral Sclerosis

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Appelbaum, J. S., Roos, R. P., Salazar-Grueso, E. F., Buchman, A., Iannaccone, S., Glantz, R., ... Maselli, R. A. (1992). Intrafamilial heterogeneity in hereditary motor neuron disease. Neurology, 42(8), 1488-1492.

Intrafamilial heterogeneity in hereditary motor neuron disease. / Appelbaum, J. S.; Roos, R. P.; Salazar-Grueso, E. F.; Buchman, A.; Iannaccone, S.; Glantz, R.; Siddique, T.; Maselli, Ricardo A.

In: Neurology, Vol. 42, No. 8, 1992, p. 1488-1492.

Research output: Contribution to journalArticle

Appelbaum, JS, Roos, RP, Salazar-Grueso, EF, Buchman, A, Iannaccone, S, Glantz, R, Siddique, T & Maselli, RA 1992, 'Intrafamilial heterogeneity in hereditary motor neuron disease', Neurology, vol. 42, no. 8, pp. 1488-1492.
Appelbaum JS, Roos RP, Salazar-Grueso EF, Buchman A, Iannaccone S, Glantz R et al. Intrafamilial heterogeneity in hereditary motor neuron disease. Neurology. 1992;42(8):1488-1492.
Appelbaum, J. S. ; Roos, R. P. ; Salazar-Grueso, E. F. ; Buchman, A. ; Iannaccone, S. ; Glantz, R. ; Siddique, T. ; Maselli, Ricardo A. / Intrafamilial heterogeneity in hereditary motor neuron disease. In: Neurology. 1992 ; Vol. 42, No. 8. pp. 1488-1492.
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