Switzerland E-mail Research Articles

Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation

Boys with unexplained West syndrome should be examined for a mutation in the Aristaless related homeobox gene, especially, when the family history is positive for mental retardation and epilepsy. X-linked West syndrome is very rare. We report on two brothers with West syndrome and dystonia with polyalanine expansion of the Aristaless related homeobox gene (ARX). The index patient (Fig. 1a; III-2) was the second child of non-consanguineous parents, born in 2001 at term, after an uneventful pregnancy and delivery (birth weight 3659 g, 75th percentile; length 51 cm, 75th percentile; head circumference 35 cm, 50th percentile). At the age of 3 months he developed infantile spasms and a hypsarrhythmic EEG pattern. He promptly responded to vigabatrin therapy. At 5 months a generalised dystonia, i.e. increased muscle tone with dystonic posturing of limbs, was evident. At the age of 3 years, he is able to walk a few steps with help and grasping objects is very difficult. He has no expressive speech. The elder brother of the index patient (Fig. 1a; III-1) was born in 1996 by caesarean section because of neonatal macrosomia (birth weight 4200 g, 90th percentile; length 53 cm, 90th percentile; head circumference 38 cm, >90th percentile). At the age of 3 months he showed dystonic movements and marked truncal hypotonia. One month later he developed infantile spasms and a hypsarrhythmic EEG pattern. He did not respond to vigabatrin, but to ACTH. At the age of 8 years he is wheel-chair bound, not talking, grasping objects is not possible. In both children metabolic tests and neuroimaging (MRI) were normal. Actually, both brothers suffer from a severe dystonia, mental impairment and rare generalised tonic-clonic seizures (the older brother), treated with valproic acid. The family history was remarkable. In the maternal uncle (Fig. 1a; II-3, now 37 years old), spastic tetraplegia, mental retardation and epilepsy have been present since early infancy. In retrospect, the epilepsy syndrome could not be classified. MRI was not performed in this uncle, the mother or the grandmother. From the pedigree and the clinical findings we suspected a mutation in the ARX gene. Following informed consent, a sequence analysis of the coding region and flanking intronic sequences of the ARX gene was performed. The male proband (index patient; Fig. 1a; III-2) as well as his brother and uncle were found to be hemizygous for a 21 bp GCG repeat expansion in exon 2 of the ARX gene c.333_334ins(GCG)7, which expands the first of four alanine tracts from normally 16 to 23 alanine residues (Fig. 1b,c). Both the mother (Fig. 11; II-2) and the maternal grandmother (Fig. 1a; I-2) were identified as heterozygous mutation carriers using an optimised fluorescence-based PCR assay. Mutations in the ARX gene have been found in a broad spectrum of disorders including X-linked infantile spasms (ISSX)/West syndrome, mental retardation [2], ataxia and dystonia (Partington syndrome), syndromic and non-syndromic forms of mental retardation, myoclonic epilepsy and X-linked lissencephaly with abnormal genitalia (XLAG) [5, 6,8]. The mutation found in our Swiss family, which is not related to previously reported families, has been described before in boys with infantile spasms and normal MRI, severe mental and motor retardation [7]. In addition to Partington syndrome, dystonia was described in a few unpublished Australian and Norwegian cases [6], but G. Wohlrab (&) AE B. Schmitt AE E. Boltshauser Department of Neuropaediatrics and Neurophysiology, University Children’s Hospital, Steinwiesstrasse 75, 8032 Zurich, Switzerland E-mail: gabriele.wohlrab@kispi.unizh.ch Tel.: +41-1-2667701 Fax: +41-1-2667165

The detrimental effect of anti-thyroid drugs on the outcome of radioiodine therapy is not directly due to decreased radioiodine uptake

aInstitute of Nuclear Medicine and bDivision of Endrocrinology, University Hospital Basel, Switzerland Correspondence to Dr Martin A. Walter, Institute of Nuclear Medicine, University Hospital, Petersgraben 4, CH-4031 Basel, Switzerland E-mail: [email protected]

Continuous Popliteal Sciatic Nerve Block. How to be Sure the Catheter Works?

Acta Anaesthesiologica ScandinavicaVolume 48, Issue 10 p. 1342-1342 Continuous Popliteal Sciatic Nerve Block. How to be Sure the Catheter Works? G. Ekatodramis, G. EkatodramisSearch for more papers by this authorM. Nadig, M. NadigSearch for more papers by this authorS. Blumenthal, S. BlumenthalSearch for more papers by this authorA. Borgeat, Corresponding Author A. Borgeat *Prof. Alain BorgeatOrthopedic University Hospital Balgrist Anesthesiology Zurich Switzerland e-mail: aborgeat@balgrist.unizh.chSearch for more papers by this author G. Ekatodramis, G. EkatodramisSearch for more papers by this authorM. Nadig, M. NadigSearch for more papers by this authorS. Blumenthal, S. BlumenthalSearch for more papers by this authorA. Borgeat, Corresponding Author A. Borgeat *Prof. Alain BorgeatOrthopedic University Hospital Balgrist Anesthesiology Zurich Switzerland e-mail: aborgeat@balgrist.unizh.chSearch for more papers by this author First published: 25 October 2004 https://doi.org/10.1111/j.1399-6576.2004.00515.xCitations: 1Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article.Citing Literature Volume48, Issue10November 2004Pages 1342-1342 RelatedInformation

Dendritic cell therapy for skin cancer.

Vox SanguinisVolume 87, Issue s2 p. 112-114 Dendritic cell therapy for skin cancer F. O. Nestle, Corresponding Author F. O. Nestle Department of Dermatology, University Hospital of Zurich, Zurich, SwitzerlandFrank O. Nestle, Department of Dermatology, University Hospital of Zurich, Gloriastrasse 31, 8091 Zurich, Switzerland E-mail: nestle@derm.unizh.chSearch for more papers by this authorC. Conrad, C. Conrad Department of Dermatology, University Hospital of Zurich, Zurich, SwitzerlandSearch for more papers by this author F. O. Nestle, Corresponding Author F. O. Nestle Department of Dermatology, University Hospital of Zurich, Zurich, SwitzerlandFrank O. Nestle, Department of Dermatology, University Hospital of Zurich, Gloriastrasse 31, 8091 Zurich, Switzerland E-mail: nestle@derm.unizh.chSearch for more papers by this authorC. Conrad, C. Conrad Department of Dermatology, University Hospital of Zurich, Zurich, SwitzerlandSearch for more papers by this author First published: 22 June 2004 https://doi.org/10.1111/j.1741-6892.2004.00465.xCitations: 1Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Citing Literature Volume87, Issues2July 2004Pages 112-114 RelatedInformation

Announcement

International Endodontic JournalVolume 36, Issue 12 p. 964-965 Announcement Ove Peters Dr, Ove Peters Dr Division of Endodontology University of Zürich Plattenstr. 11 CH-8028 Zürich Switzerland E-mail: ove.peters@zzmk.unizh.chSearch for more papers by this author Ove Peters Dr, Ove Peters Dr Division of Endodontology University of Zürich Plattenstr. 11 CH-8028 Zürich Switzerland E-mail: ove.peters@zzmk.unizh.chSearch for more papers by this author First published: 26 November 2003 https://doi.org/10.1111/j.1365-2591.2003.00737.xRead the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article. Volume36, Issue12December 2003Pages 964-965 RelatedInformation

DNA's golden jubilee

DNA's golden jubilee

René Descartes' physiology of pain.

From the *Spine Unit, Schulthess Hospital, Zürich, Switzerland, and the †Department of Anesthesiology, Dartmouth–Hitchcock Medical Center, Lebanon, New Hampshire. Address reprint requests to A. Benini, MD Neurosurgical Department, Spine Unit Schulthess Hospital Lengghalde 2 CH-8008 Zürich Switzerland E-mail:[email protected]

Gregor Mendel's Green and Yellow Pea Seeds

Botanica ActaVolume 109, Issue 1 p. 3-4 Gregor Mendel's Green and Yellow Pea Seeds H. Thomas, H. Thomas Institute of Grassland and Environmental Research, Aberystwyth, UKSearch for more papers by this authorM. Schellenberg, M. Schellenberg Institute of Plant Biology, University of Zurich, SwitzerlandSearch for more papers by this authorF. Vicentini, F. Vicentini Institute of Plant Biology, University of Zurich, SwitzerlandSearch for more papers by this authorPh. Matile, Corresponding Author Ph. Matile Institute of Plant Biology, University of Zurich, SwitzerlandInstitut fur Pflanzenbiologie Universitat ZOrich Zollikerstrasse 107 CH-8008ZOrich Switzerland E-mail: phibus@botinst.unizh.chSearch for more papers by this author H. Thomas, H. Thomas Institute of Grassland and Environmental Research, Aberystwyth, UKSearch for more papers by this authorM. Schellenberg, M. Schellenberg Institute of Plant Biology, University of Zurich, SwitzerlandSearch for more papers by this authorF. Vicentini, F. Vicentini Institute of Plant Biology, University of Zurich, SwitzerlandSearch for more papers by this authorPh. Matile, Corresponding Author Ph. Matile Institute of Plant Biology, University of Zurich, SwitzerlandInstitut fur Pflanzenbiologie Universitat ZOrich Zollikerstrasse 107 CH-8008ZOrich Switzerland E-mail: phibus@botinst.unizh.chSearch for more papers by this author First published: February 1996 https://doi.org/10.1111/j.1438-8677.1996.tb00862.xCitations: 47AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article.Citing Literature Volume109, Issue1February 1996Pages 3-4 RelatedInformation