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 Citations (Scopus)

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)699-704
Number of pages6
JournalNeurology
Volume45
Issue number4
StatePublished - 1995
Externally publishedYes

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Spinal Muscular Atrophy
Motor Neurons
Motor Endplate
Charcot-Marie-Tooth Disease
Cholinesterases
Electromyography
Denervation
Silver
Axons
Disease Progression
Lower Extremity
Chromosomes
Staining and Labeling
Biopsy
Muscles
DNA
Growth
Motor Disorders

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

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), 699-704.

Autosomal dominant distal spinal muscular atrophy in four generations. / Boylan, K. B.; Cornblath, D. R.; Glass, J. D.; Alderson, K.; Kuncl, R. W.; Kleyn, P. W.; Gilliam, T. C.

In: Neurology, Vol. 45, No. 4, 1995, p. 699-704.

Research output: Contribution to journalArticle

Boylan, KB, Cornblath, DR, Glass, JD, Alderson, K, Kuncl, RW, Kleyn, PW & Gilliam, TC 1995, 'Autosomal dominant distal spinal muscular atrophy in four generations', Neurology, vol. 45, no. 4, pp. 699-704.
Boylan KB, Cornblath DR, Glass JD, Alderson K, Kuncl RW, Kleyn PW et al. Autosomal dominant distal spinal muscular atrophy in four generations. Neurology. 1995;45(4):699-704.
Boylan, K. B. ; Cornblath, D. R. ; Glass, J. D. ; Alderson, K. ; Kuncl, R. W. ; Kleyn, P. W. ; Gilliam, T. C. / Autosomal dominant distal spinal muscular atrophy in four generations. In: Neurology. 1995 ; Vol. 45, No. 4. pp. 699-704.
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