Dominantly inherited spastic paraplegia and multifocal palmoplantar hyperkeratosis

Research output: Contribution to journalArticle

Abstract

We have extended the study of a previously published kindred with spastic paraplegia and palmoplantar hyperkeratosis from 2 to 18 persons. Present evidence suggests that both neural and cutaneous manifestations are due to a single mutant gene, inherited as an autosomal dominant. Nerve conduction and EMG examination provide evidence for mild lower motor and primary sensory neuron (axon) involvement but these techniques are not useful for early detection. The disorder is a unique genetic disease which stands apart from other mostly recessively inherited varieties of neuroichthyosis.

Original languageEnglish (US)
Pages (from-to)421-424
Number of pages4
JournalRevue Neurologique
Volume144
Issue number6-7
StatePublished - 1988

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Skin Manifestations
Inborn Genetic Diseases
Paraplegia
Neural Conduction
Sensory Receptor Cells
Axons
Genes

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Dominantly inherited spastic paraplegia and multifocal palmoplantar hyperkeratosis. / Dyck, Peter J; Litchy, William J; Gosselin, S.

In: Revue Neurologique, Vol. 144, No. 6-7, 1988, p. 421-424.

Research output: Contribution to journalArticle

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