Abstract
Coffin–Lowry syndrome (CLS) is an X-linked semi-dominant condition with learning difficulties
and dysmorphism caused by mutations in the gene RSK2. Originally, epilepsy was reported as a feature. We and others have since described
predominantly sound-startle induced drop attacks that have been labelled ‘cataplexy’,
abnormal startle response and hyperekplexia. We sought to clarify why there should
be controversy over the type of paroxysmal events. Review of the literature and our
patients confirmed that each centre had studied only a small numbers of individuals
(mean=2). The type of movement disorder varied both with age and between individuals.
One individual might have more than one movement disorder. One of our adult patients
had several types of movement disorder and epilepsy that merged seamlessly: there
was true cataplexy triggered by telling a joke, something close to cataplexy (‘cataplexy’)
triggered by sound-startle, a predominantly hypertonic reaction varying from hyperekplexia
to a more prolonged tonic reaction resembling startle epilepsy, and true unprovoked
epileptic seizures. In the large database of the Coffin–Lowry Syndrome Foundation
family support group, 34 of 170 (20%) individuals with CLS and known age had ‘drop
attacks’ and an additional 9 (5%) of these had additional epileptic seizures. The
onset of such events was usually after age 5 years, prevalence peaking at 15–20 years
(27%). Many became wheelchair bound as a result. This unique combination of more than
one non-epileptic movement disorder and epilepsy deserves further semiological and
genetic study both for the patients with CLS and for the wider implications.
Keywords
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Article info
Publication history
Accepted:
November 12,
2003
Received in revised form:
November 12,
2003
Received:
July 14,
2003
Footnotes
☆The paper is based on the lecture given at the sixth annual meeting of the Infantile Seizure Society, Tokyo, March 15–16, 2003.
Identification
Copyright
© 2004 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
