Co-dominant inheritance of hyperekplexia and spastic paraparesis.

Abstract:

:In four generations of a family with autosomal dominant hyperekplexia (startle disease), untreated affected adult members had pes cavus and extensor plantar responses, as well as hyper-reflexia. Electroencephalography during a startle, electromyography, nerve conduction velocities and somatosensory evoked potentials were normal. Genetic studies showed linkage to the CSF1R locus on chromosome 5q33-q35, which includes the glycine receptor. This either represents a variant of hyperekplexia with spasticity or suggests that genes for hyperekplexia and a form of hereditary spastic paraparesis may be closely linked.

journal_name

Dev Med Child Neurol

authors

Baxter P,Connolly S,Curtis A,Spencer V,Ravindranath C,Burn J,Gardner-Medwin D

doi

10.1111/j.1469-8749.1996.tb12144.x

subject

Has Abstract

pub_date

1996-08-01 00:00:00

pages

739-43

issue

8

eissn

0012-1622

issn

1469-8749

journal_volume

38

pub_type

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