GLUT1 gene mutations cause sporadic paroxysmal exercise‐induced dyskinesias
Identifieur interne : 000E98 ( Istex/Checkpoint ); précédent : 000E97; suivant : 000E99GLUT1 gene mutations cause sporadic paroxysmal exercise‐induced dyskinesias
Auteurs : Susanne A. Schneider [Royaume-Uni] ; Coro Paisan-Ruiz [Royaume-Uni] ; Ines Garcia-Gorostiaga [Royaume-Uni, Espagne] ; Niall P. Quinn [Royaume-Uni] ; Yvonne G. Weber ; Holger Lerche [Allemagne] ; John Hardy [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 2009-08-15.
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Abstract
Paroxysmal exercise‐induced dyskinesias (PED) are involuntary intermittent movements triggered by prolonged physical exertion. Autosomal dominant inheritance may occur. Recently, mutations in the glucose transporter 1 (GLUT1) gene (chr. 1p35–p31.3) have been identified as a cause in some patients with autosomal dominant PED. Mutations in this gene have previously been associated with the GLUT1 deficiency syndrome. We performed mutational analysis in 10 patients with apparently sporadic PED. We identified two novel GLUT1 mutations, at least one likely to be de‐novo, in two of our patients. Onset was in early childhood. One of our patients had a predating history of childhood absence epilepsy and a current history of hemiplegic migraine as well as a family history of migraine. The other patient had no other symptoms apart from PED. Brain MRI showed cerebellar atrophy in one case. Mutations in GLUT1 are one cause of apparently sporadic PED. The detection of this has important implications for treatment as ketogenic diet has been reported to be beneficial. © 2009 Movement Disorder Society
Url:
DOI: 10.1002/mds.22507
Affiliations:
- Allemagne, Espagne, Royaume-Uni
- Angleterre, Bade-Wurtemberg, District de Tübingen, Grand Londres
- Londres, Ulm
- Université d'Ulm
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Autosomal dominant inheritance may occur. Recently, mutations in the glucose transporter 1 (GLUT1) gene (chr. 1p35–p31.3) have been identified as a cause in some patients with autosomal dominant PED. Mutations in this gene have previously been associated with the GLUT1 deficiency syndrome. We performed mutational analysis in 10 patients with apparently sporadic PED. We identified two novel GLUT1 mutations, at least one likely to be de‐novo, in two of our patients. Onset was in early childhood. One of our patients had a predating history of childhood absence epilepsy and a current history of hemiplegic migraine as well as a family history of migraine. The other patient had no other symptoms apart from PED. Brain MRI showed cerebellar atrophy in one case. Mutations in GLUT1 are one cause of apparently sporadic PED. The detection of this has important implications for treatment as ketogenic diet has been reported to be beneficial. © 2009 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Espagne</li><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Bade-Wurtemberg</li><li>District de Tübingen</li><li>Grand Londres</li></region><settlement><li>Londres</li><li>Ulm</li></settlement><orgName><li>Université d'Ulm</li></orgName></list><tree><noCountry><name sortKey="Weber, Yvonne G" sort="Weber, Yvonne G" uniqKey="Weber Y" first="Yvonne G." last="Weber">Yvonne G. Weber</name></noCountry><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A." last="Schneider">Susanne A. Schneider</name></region><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name><name sortKey="Garcia Orostiaga, Ines" sort="Garcia Orostiaga, Ines" uniqKey="Garcia Orostiaga I" first="Ines" last="Garcia-Gorostiaga">Ines Garcia-Gorostiaga</name><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><name sortKey="Paisan Uiz, Coro" sort="Paisan Uiz, Coro" uniqKey="Paisan Uiz C" first="Coro" last="Paisan-Ruiz">Coro Paisan-Ruiz</name><name sortKey="Quinn, Niall P" sort="Quinn, Niall P" uniqKey="Quinn N" first="Niall P." last="Quinn">Niall P. Quinn</name></country><country name="Espagne"><noRegion><name sortKey="Garcia Orostiaga, Ines" sort="Garcia Orostiaga, Ines" uniqKey="Garcia Orostiaga I" first="Ines" last="Garcia-Gorostiaga">Ines Garcia-Gorostiaga</name></noRegion></country><country name="Allemagne"><region name="Bade-Wurtemberg"><name sortKey="Lerche, Holger" sort="Lerche, Holger" uniqKey="Lerche H" first="Holger" last="Lerche">Holger Lerche</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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