Co-dominant inheritance of hyperekplexia and spastic paraparesis.
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.
Baxter
P
P
Department of Paediatric Neurology, Newcastle General Hospital, Newcastle upon Tyne, UK.
Connolly
S
S
Curtis
A
A
Spencer
V
V
Ravindranath
C
C
Burn
J
J
Gardner-Medwin
D
D
D000328:Adult; D001483:Base Sequence; D002869:Chromosome Aberrations / Q000235:genetics* / Q000503:physiopathology; D025063:Chromosome Disorders; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D015493:Paraparesis, Tropical Spastic / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D013216:Reflex, Startle / Q000502:physiology*