Autosomal dominant distal spinal muscular atrophy in four generations

K. B. Boylan, D. R. Cornblath, J. D. Glass, K. Alderson, R. W. Kuncl, P. W. Kleyn, T. C. Gilliam

Research output: Contribution to journalArticle

13 Scopus citations

Abstract

Article abstract-Distal spinal muscular atrophy is a rare lower motor neuron disorder that may be difficult to distinguish clinically from type II Charcot-Marie-Tooth disease. We report on clinical and pathologic findings in 13 members of a four-generation extended family with autosomal dominant distal spinal muscular atrophy. The patients developed a slowly progressive lower motor neuron disorder involving mainly the distal lower extremities; onset was from the second to fourth decades. Electromyography and muscle biopsy findings were indicative of motor denervation. Combined silver/cholinesterase/immunocytochemical staining of intramuscular nerve revealed abundant collateral axonal branching in mild disease but marked loss of terminal motor endplate innervation in the more severe state, suggesting decreased growth of motor axon collaterals with disease progression. Multipoint DNA linkage analysis showed that this family's disorder is not linked to the chromosome 5q11.2-13.3 spinal muscular atrophy locus.

Original languageEnglish (US)
Pages (from-to)699-712
Number of pages14
JournalNeurology
Volume45
Issue number4
DOIs
StatePublished - Apr 1995

ASJC Scopus subject areas

  • Clinical Neurology

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    Boylan, K. B., Cornblath, D. R., Glass, J. D., Alderson, K., Kuncl, R. W., Kleyn, P. W., & Gilliam, T. C. (1995). Autosomal dominant distal spinal muscular atrophy in four generations. Neurology, 45(4), 699-712. https://doi.org/10.1212/WNL.45.4.699