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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2014

Open Access 01-12-2014 | Letter to the Editor

Treatment of motor and behavioural symptoms in three Lesch-Nyhan patients with intrathecal baclofen

Authors: Marco Pozzi, Luigi Piccinini, Maurizio Gallo, Francesco Motta, Sonia Radice, Emilio Clementi

Published in: Orphanet Journal of Rare Diseases | Issue 1/2014

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Abstract

Current therapies for the Lesch-Nyhan Syndrome (OMIM: 300322) are off-label and experimental, often leading to inconsistent outcomes. We here report the effects of an intrathecal baclofen therapy, carried out at the Scientific Institute Eugenio Medea (Lecco, Italy), on three patients who no longer received benefit from previous therapies. This treatment, as expected, ameliorated the motor symptoms and, unexpectedly, it also improved behavioural components. This result may involve a functional interaction between baclofen and dopamine, complemented by an anxiolytic effect. Our observations provide the rationale for the use of intrathecal baclofen administration in the therapy of the Lesch-Nyhan Syndrome.
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Metadata
Title
Treatment of motor and behavioural symptoms in three Lesch-Nyhan patients with intrathecal baclofen
Authors
Marco Pozzi
Luigi Piccinini
Maurizio Gallo
Francesco Motta
Sonia Radice
Emilio Clementi
Publication date
01-12-2014
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2014
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/s13023-014-0208-3

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