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ELECTRONIC ARTICLE:
Gregg B. Nelson and Jin S. Hahn
Stimulus-Induced Drop Episodes in Coffin-Lowry Syndrome
Pediatrics 2003; 111: e197-e202 [Abstract] [Full text] [PDF]
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[Read P3R] Coffin-Lowry movement disorders
John BP Stephenson   (4 March 2003)

Coffin-Lowry movement disorders 4 March 2003
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John BP Stephenson,
Professor in Paediatric Neurology
Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Glasgow, Scotland UK

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Re: Coffin-Lowry movement disorders

john{at}jbpstephenson.com John BP Stephenson

Drs Nelson and Hahn are to be congratulated on an excellent study of the movement disorders in Coffin-Lowry syndrome (CLS). Their conclusions concur with my observations previously reported in brief[1]. In the adult female with manifesting CLS referred to in that abstract[1] cataplexy, something akin to hyperekplexia and true epilepsy have all been observed. At the Infantile Seizure Society meeting in Tokyo later this month I will be showing a video clip of sudden loss of postural tone most affecting the neck and provoked by her telling a joke. This effect of humour and laughter suggests true cataplexy, albeit in this instance lasting only 2 seconds. In response to sound startle, not only does she have transient hypertonia and atonia mixed, but more prolonged tonic upper limb extensions lasting up to 7 seconds, and with semiology that would do for startle epilepsy of the tonic type. Finally, she has true epileptic seizures from night sleep, apparently unprovoked, with onset similar to her tonic daytime startles but followed by vibratory clonus for about 80 seconds. This combination of apparently non-epileptic and epileptic attacks in the same individual is of great interest, but one has to say apparently non-epileptic attacks, as lack of ictal EEG discharges is typical of startle epilepsy[2]. One of the difficulties in furthering our understanding of these episodes is that each investigator tends to have seen only very few individuals with CLS. Also, as the authors point out, the type of movement disorder may evolve over time. A collaborative study involving the large data base of the Coffin-Lowry Syndrome Foundation is proposed, and suggestions or contributions would be welcomed. Although this condition is rare, its study may throw light on more common paroxysmal disorders.

1. Stephenson JBP. More than 'cataplexy' in Coffin-Lowry syndrome: tonic as well as atonic semiology in Coffin-Lowry syndrome. Dev Med Child Neurol 1999; 41 Suppl 82, 28 2.Manford MRA, Fish DR, Shorvon SD. Startle provoked epileptic seizures: features in 19 patients. J Neurol Neurosurg Psychiatry 1996; 61:151-6