18 results on '"Fedirko, Estelle"'
Search Results
2. Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy
- Author
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Klebe, Stephan, Depienne, Christel, Gerber, Sylvie, Challe, Georges, Anheim, Mathieu, Charles, Perrine, Fedirko, Estelle, Lejeune, Elodie, Cottineau, Julien, Brusco, Alfredo, Dollfus, Hélène, Chinnery, Patrick F., Mancini, Cecilia, Ferrer, Xavier, Sole, Guilhem, Destée, Alain, Mayer, Jean-Michel, Fontaine, Bertrand, Seze, Jérôme de, Clanet, Michel, Ollagnon, Elisabeth, Busson, Philippe, Cazeneuve, Cécile, Stevanin, Giovanni, Kaplan, Josseline, Rozet, Jean-Michel, Brice, Alexis, and Durr, Alexandra
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- 2012
- Full Text
- View/download PDF
3. REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction
- Author
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Goizet, Cyril, Depienne, Christel, Benard, Giovanni, Boukhris, Amir, Mundwiller, Emeline, Solé, Guilhem, Coupry, Isabelle, Pilliod, Julie, Martin-Négrier, Marie-Laure, Fedirko, Estelle, Forlani, Sylvie, Cazeneuve, Cécile, Hannequin, Didier, Charles, Perrine, Feki, Imed, Pinel, Jean-François, Ouvrard-Hernandez, Anne-Marie, Lyonnet, Stanislas, Ollagnon-Roman, Elisabeth, Yaouanq, Jacqueline, Toutain, Annick, Dussert, Christelle, Fontaine, Bertrand, Leguern, Eric, Lacombe, Didier, Durr, Alexandra, Rossignol, Rodrigue, Brice, Alexis, and Stevanin, Giovanni
- Published
- 2011
- Full Text
- View/download PDF
4. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia
- Author
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Clot, Fabienne, Grabli, David, Cazeneuve, Cécile, Roze, Emmanuel, Castelnau, Pierre, Chabrol, Brigitte, Landrieu, Pierre, Nguyen, Karine, Ponsot, Gérard, Abada, Myriem, Doummar, Diane, Damier, Philippe, Gil, Roger, Thobois, Stéphane, Ward, Alana J., Hutchinson, Michael, Toutain, Annick, Picard, Fabienne, Camuzat, Agnès, Fedirko, Estelle, Sân, Chankannira, Bouteiller, Delphine, LeGuern, Eric, Durr, Alexandra, Vidailhet, Marie, and Brice, Alexis
- Published
- 2009
5. Screening of ARHSP-TCC Patients Expands the Spectrum of SPG11 Mutations and Includes a Large Scale Gene Deletion
- Author
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Denora, Paola S., Schlesinger, David, Casali, Carlo, Kok, Fernando, Tessa, Alessandra, Boukhris, Amir, Azzedine, Hamid, Teresa Dotti, Maria, Bruno, Claudio, Truchetto, Jeremy, Biancheri, Roberta, Fedirko, Estelle, Di Rocco, Maja, Bueno, Clarissa, Malandrini, Alessandro, Battini, Roberta, Sickl, Elisabeth, de Leva, Maria Fulvia, Boespflug-Tanguy, Odile, Silvestri, Gabriella, Simonati, Alessandro, Said, Edith, Ferbert, Andreas, Criscuolo, Chiara, Heinimann, Karl, Modoni, Anna, Weber, Peter, Palmeri, Silvia, Plasilova, Martina, Pauri, Flavia, Cassandrini, Denise, Battisti, Carla, Pini, Antonella, Tosetti, Michela, Hauser, Erwin, Masciullo, Marcella, Di Fabio, Roberto, Piccolo, Francesca, Denis, Elodie, Cioni, Giovanni, Massa, Roberto, Giustina, Elvio Della, Calabrese, Olga, Melone, Marina A.B., De Michele, Giuseppe, Federico, Antonio, Bertini, Enrico, Durr, Alexandra, Brockmann, Knut, Knaap, Marjo S. van der, Zatz, Mayana, Filla, Alessandro, Brice, Alexis, Stevanin, Giovanni, and Santorelli, Filippo M.
- Published
- 2009
- Full Text
- View/download PDF
6. Two Novel CLCN2 Mutations Accelerating Chloride Channel Deactivation Are Associated With Idiopathic Generalized Epilepsy
- Author
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Saint-Martin, Cécile, Gauvain, Grégory, Teodorescu, Georgeta, Gourfinkel-An, Isabelle, Fedirko, Estelle, Weber, Yvonne G., Maljevic, Snezana, Ernst, Jan-Peter, Garcia-Olivares, Jennie, Fahlke, Christoph, Nabbout, Rima, LeGuern, Eric, Lerche, Holger, Christophe Poncer, Jean, and Depienne, Christel
- Published
- 2009
- Full Text
- View/download PDF
7. A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP
- Author
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Depienne, Christel, Fedirko, Estelle, Faucheux, Jean-Marc, Forlani, Sylvie, Bricka, Bernard, Goizet, Cyril, Lesourd, Sylvie, Stevanin, Giovanni, Ruberg, Merle, Durr, Alexandra, and Brice, Alexis
- Published
- 2007
- Full Text
- View/download PDF
8. Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia
- Author
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Depienne, Christel, Fedirko, Estelle, Forlani, Sylvie, Cazeneuve, Cécile, Ribaï, Pascale, Feki, Imed, Tallaksen, Chantal, Nguyen, Karine, Stankoff, Bruno, Ruberg, Merle, Stevanin, Giovanni, Durr, Alexandra, and Brice, Alexis
- Published
- 2007
9. Parental Mosaicism Can Cause Recurrent Transmission of SCN1A Mutations Associated With Severe Myoclonic Epilepsy of Infancy
- Author
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Depienne, Christel, Arzimanoglou, Alexis, Trouillard, Oriane, Fedirko, Estelle, Baulac, Stéphanie, Saint-Martin, Cécile, Ruberg, Merle, Dravet, Charlotte, Nabbout, Rima, Baulac, Michel, Gourfinkel-An, Isabelle, and LeGuern, Eric
- Published
- 2006
- Full Text
- View/download PDF
10. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia
- Author
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Clot, Fabienne, Grabli, David, Cazeneuve, Cécile, Roze, Emmanuel, Castelnau, Pierre, Chabrol, Brigitte, Landrieu, Pierre, Nguyen, Karine, Ponsot, Gérard, Abada, Myriem, Doummar, Diane, Damier, Philippe, Gil, Roger, Thobois, Stéphane, Ward, Alana J., Hutchinson, Michael, Toutain, Annick, Picard, Fabienne, Camuzat, Agnès, Fedirko, Estelle, Sân, Chankannira, Bouteiller, Delphine, LeGuern, Eric, Durr, Alexandra, Vidailhet, Marie, Brice, Alexis, Clot, Fabienne, Grabli, David, Cazeneuve, Cécile, Roze, Emmanuel, Castelnau, Pierre, Chabrol, Brigitte, Landrieu, Pierre, Nguyen, Karine, Ponsot, Gérard, Abada, Myriem, Doummar, Diane, Damier, Philippe, Gil, Roger, Thobois, Stéphane, Ward, Alana J., Hutchinson, Michael, Toutain, Annick, Picard, Fabienne, Camuzat, Agnès, Fedirko, Estelle, Sân, Chankannira, Bouteiller, Delphine, LeGuern, Eric, Durr, Alexandra, Vidailhet, Marie, and Brice, Alexis
- Abstract
Dopa-responsive dystonia is a childhood-onset dystonic disorder, characterized by a dramatic response to low dose of l-Dopa. Dopa-responsive dystonia is mostly caused by autosomal dominant mutations in the GCH1 gene (GTP cyclohydrolase1) and more rarely by autosomal recessive mutations in the TH (tyrosine hydroxylase) or SPR (sepiapterin reductase) genes. In addition, mutations in the PARK2 gene (parkin) which causes autosomal recessive juvenile parkinsonism may present as Dopa-responsive dystonia. In order to evaluate the relative frequency of the mutations in these genes, but also in the genes involved in the biosynthesis and recycling of BH4, and to evaluate the associated clinical spectrum, we have studied a large series of index patients (n = 64) with Dopa-responsive dystonia, in whom dystonia improved by at least 50% after l-Dopa treatment. Fifty seven of these patients were classified as pure Dopa-responsive dystonia and seven as Dopa-responsive dystonia-plus syndromes. All patients were screened for point mutations and large rearrangements in the GCH1 gene, followed by sequencing of the TH and SPR genes, then PTS (pyruvoyl tetrahydropterin synthase), PCBD (pterin-4a-carbinolamine dehydratase), QDPR (dihydropteridin reductase) and PARK2 (parkin) genes. We identified 34 different heterozygous point mutations in 40 patients, and six different large deletions in seven patients in the GCH1 gene. Except for one patient with mental retardation and a large deletion of 2.3 Mb encompassing 10 genes, all patients had stereotyped clinical features, characterized by pure Dopa-responsive dystonia with onset in the lower limbs and an excellent response to low doses of l-Dopa. Dystonia started in the first decade of life in 40 patients (85%) and before the age of 1 year in one patient (2.2%). Three of the 17 negative GCH1 patients had mutations in the TH gene, two in the SPR gene and one in the PARK2 gene. No mutations in the three genes involved in the biosynthesis and rec
- Published
- 2017
11. Analyse du transcriptome au cours du nycthémère dans le bois de tension de peuplier
- Author
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Fedirko, Estelle, Unité de recherche Amélioration, Génétique et Physiologie Forestières (AGPF), Institut National de la Recherche Agronomique (INRA), and Autres régions du monde. Université d'Orléans (UO), FRA.
- Subjects
puces à ADN ,tension wood ,bois de tension ,poplar ,transcriptomique ,RT-PCR ,[SDV.BV]Life Sciences [q-bio]/Vegetal Biology ,transcriptomic ,nyctemer ,microarray ,peuplier ,nycthémère - Abstract
Master; In response to environmental stimuli such as wind, snow, slope or asymmetric crown shape, leaning woody plants form a special tissue, named reaction wood, which allows tree axis reorientation. In angiosperm trees, this reaction wood is associated with tensile strains and consequently has been named tension wood (TW). In poplar, TW is mainly characterized by xylem fibres which are poorly lignified and have an extra thick gelatinous secondary layer, named G layer, in the secondary cell wall. This G layer contains almost completely pure crystalline cellulose with microfibrils oriented nearly parallel to the axis of the fibre. The aim of this experiment is to investigate genome-wide expression patterns in tension wood in response to nyctemeral variation. For this purpose, samples were collected from a kinetic experiment every 6 hours over a period of 24h from young stems inclined. Expression data of the genome-wide were obtained using the poplar Affymetrix array, Using bioinformatics tools, the transcriptomic analysis have identified proteins involved in the regulation of the daily biological rhythm. The level of expression of these candidate genes was verified by RT-PCR semi-quantitative.; En réponse aux stimuli environnementaux, comme le vent, la neige ou la pente, les plantes ligneuses inclinées forment un tissu spécial, nommé le bois de réaction, qui permet à l'arbre de réorienter son axe. Dans les angiospermes, ce bois de réaction est associé à des contraintes de tension et, par conséquent, a été nommé le bois de tension (BT). Chez le peuplier, le BT est principalement caractérisé par les fibres de xylème qui sont mal lignifiées et possèdent une épaisse couche secondaire gélatineuse, appelée couche G, dans la paroi cellulaire secondaire. Cette couche G contient principalement de la cellulose cristalline avec des microfibrilles orientées parallèlement à l'axe de la fibre. L'objectif de ce travail est d'étudier les profils d'expression du génome complet dans le bois de tension dans la réponse à la variation nyctéméral. Pour cela, à partir de jeunes tiges inclinées, des échantillons ont été prélevés en cinétique toutes les 6 heures sur 24 heures. Des données d'expression du génome entier ont été recueillies grâce aux expériences sur puce de peuplier Affymetrix. En utilisant des outils de bioinformatique, ces analyses transcriptomiques ont notamment permis d'identifier des protéines impliquées dans la régulation du rythme biologique journalier. Le niveau d'expression de ces gènes candidats a été vérifié en RT-PCR semi quantitative.
- Published
- 2009
12. Two novelCLCN2mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy
- Author
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Saint-Martin, C��cile, primary, Gauvain, Gr��gory, additional, Teodorescu, Georgeta, additional, Gourfinkel-An, Isabelle, additional, Fedirko, Estelle, additional, Weber, Yvonne G., additional, Maljevic, Snezana, additional, Ernst, Jan-Peter, additional, Garcia-Olivares, Jennie, additional, Fahlke, Christoph, additional, Nabbout, Rima, additional, LeGuern, Eric, additional, Lerche, Holger, additional, Poncer, Jean Christophe, additional, and Depienne, Christel, additional
- Published
- 2009
- Full Text
- View/download PDF
13. Screening of ARHSP-TCC patients expands the spectrum ofSPG11mutations and includes a large scale gene deletion
- Author
-
Denora, Paola S., primary, Schlesinger, David, additional, Casali, Carlo, additional, Kok, Fernando, additional, Tessa, Alessandra, additional, Boukhris, Amir, additional, Azzedine, Hamid, additional, Dotti, Maria Teresa, additional, Bruno, Claudio, additional, Truchetto, Jeremy, additional, Biancheri, Roberta, additional, Fedirko, Estelle, additional, Di Rocco, Maja, additional, Bueno, Clarissa, additional, Malandrini, Alessandro, additional, Battini, Roberta, additional, Sickl, Elisabeth, additional, de Leva, Maria Fulvia, additional, Boespflug-Tanguy, Odile, additional, Silvestri, Gabriella, additional, Simonati, Alessandro, additional, Said, Edith, additional, Ferbert, Andreas, additional, Criscuolo, Chiara, additional, Heinimann, Karl, additional, Modoni, Anna, additional, Weber, Peter, additional, Palmeri, Silvia, additional, Plasilova, Martina, additional, Pauri, Flavia, additional, Cassandrini, Denise, additional, Battisti, Carla, additional, Pini, Antonella, additional, Tosetti, Michela, additional, Hauser, Erwin, additional, Masciullo, Marcella, additional, Fabio, Roberto Di, additional, Piccolo, Francesca, additional, Denis, Elodie, additional, Cioni, Giovanni, additional, Massa, Roberto, additional, Giustina, Elvio Della, additional, Calabrese, Olga, additional, Melone, Marina A.B., additional, De Michele, Giuseppe, additional, Federico, Antonio, additional, Bertini, Enrico, additional, Durr, Alexandra, additional, Brockmann, Knut, additional, van der Knaap, Marjo S., additional, Zatz, Mayana, additional, Filla, Alessandro, additional, Brice, Alexis, additional, Stevanin, Giovanni, additional, and Santorelli, Filippo M., additional
- Published
- 2009
- Full Text
- View/download PDF
14. Mental deficiency in three families with SPG4 spastic paraplegia
- Author
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Ribaï, Pascale, primary, Depienne, Christel, additional, Fedirko, Estelle, additional, Jothy, Anne-Catherine, additional, Viveweger, Caterine, additional, Hahn-Barma, Valérie, additional, Brice, Alexis, additional, and Durr, Alexandra, additional
- Published
- 2007
- Full Text
- View/download PDF
15. Parental mosaicism can cause recurrent transmission ofSCN1A mutations associated with severe myoclonic epilepsy of infancy
- Author
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Depienne, Christel, primary, Arzimanoglou, Alexis, additional, Trouillard, Oriane, additional, Fedirko, Estelle, additional, Baulac, Stéphanie, additional, Saint-Martin, Cécile, additional, Ruberg, Merle, additional, Dravet, Charlotte, additional, Nabbout, Rima, additional, Baulac, Michel, additional, Gourfinkel-An, Isabelle, additional, and Leguern, Eric, additional
- Published
- 2006
- Full Text
- View/download PDF
16. Mental deficiency in three families with SPG4 spastic paraplegia.
- Author
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Ribaï, Pascale, Depienne, Christel, Fedirko, Estelle, Jothy, Anne-Catherine, Viveweger, Caterine, Hahn-Barma, Valérie, Brice, Alexis, and Durr, Alexandra
- Subjects
GENETIC mutation ,SPASTIC paralysis ,PARAPLEGIA ,EXTREMITIES (Anatomy) ,DEMENTIA ,INTELLECTUAL disabilities - Abstract
Mutations and deletions in the SPG4 gene are responsible for up to 40% of autosomal dominant hereditary spastic paraplegia (HSP). Patients have pyramidal signs in the lower limbs and some present additional features including cognitive impairment such as executive dysfunction or subcortical dementia. We report 13 patients from three SPG4 families, who had spastic paraplegia associated with mental retardation (n=1), extensive social dependence (n=10), or isolated psychomotor delay (n=2). In family FSP-698, 10 affected individuals had both HSP and mental deficiency leading to social dependence in 9 and institutionalization in 5. The mean age at onset of spastic paraplegia was 11±20 years, ranging from 1 to 51 years. This phenotype segregated either with a novel p.Glu442Lys mutation or the two previously described p.Arg459Thr and p.Arg499Cys substitutions in the SPG4 gene. Since two of these mutations were previously reported in families with a pure form of the disease, another genetic factor linked to SPG4 could be responsible for this complex phenotype.European Journal of Human Genetics (2008) 16, 97–104; doi:10.1038/sj.ejhg.5201922; published online 24 October 2007 [ABSTRACT FROM AUTHOR]
- Published
- 2008
- Full Text
- View/download PDF
17. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia
- Author
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Clot, Fabienne, Grabli, David, Cazeneuve, Cécile, Roze, Emmanuel, Castelnau, Pierre, Chabrol, Brigitte, Landrieu, Pierre, Nguyen, Karine, Ponsot, Gérard, Abada, Myriem, Doummar, Diane, Damier, Philippe, Gil, Roger, Thobois, Stéphane, Ward, Alana J., Hutchinson, Michael, Toutain, Annick, Picard, Fabienne, Camuzat, Agnès, Fedirko, Estelle, Sân, Chankannira, Bouteiller, Delphine, LeGuern, Eric, Durr, Alexandra, Vidailhet, Marie, Brice, Alexis, Clot, Fabienne, Grabli, David, Cazeneuve, Cécile, Roze, Emmanuel, Castelnau, Pierre, Chabrol, Brigitte, Landrieu, Pierre, Nguyen, Karine, Ponsot, Gérard, Abada, Myriem, Doummar, Diane, Damier, Philippe, Gil, Roger, Thobois, Stéphane, Ward, Alana J., Hutchinson, Michael, Toutain, Annick, Picard, Fabienne, Camuzat, Agnès, Fedirko, Estelle, Sân, Chankannira, Bouteiller, Delphine, LeGuern, Eric, Durr, Alexandra, Vidailhet, Marie, and Brice, Alexis
- Abstract
Dopa-responsive dystonia is a childhood-onset dystonic disorder, characterized by a dramatic response to low dose of l-Dopa. Dopa-responsive dystonia is mostly caused by autosomal dominant mutations in the GCH1 gene (GTP cyclohydrolase1) and more rarely by autosomal recessive mutations in the TH (tyrosine hydroxylase) or SPR (sepiapterin reductase) genes. In addition, mutations in the PARK2 gene (parkin) which causes autosomal recessive juvenile parkinsonism may present as Dopa-responsive dystonia. In order to evaluate the relative frequency of the mutations in these genes, but also in the genes involved in the biosynthesis and recycling of BH4, and to evaluate the associated clinical spectrum, we have studied a large series of index patients (n = 64) with Dopa-responsive dystonia, in whom dystonia improved by at least 50% after l-Dopa treatment. Fifty seven of these patients were classified as pure Dopa-responsive dystonia and seven as Dopa-responsive dystonia-plus syndromes. All patients were screened for point mutations and large rearrangements in the GCH1 gene, followed by sequencing of the TH and SPR genes, then PTS (pyruvoyl tetrahydropterin synthase), PCBD (pterin-4a-carbinolamine dehydratase), QDPR (dihydropteridin reductase) and PARK2 (parkin) genes. We identified 34 different heterozygous point mutations in 40 patients, and six different large deletions in seven patients in the GCH1 gene. Except for one patient with mental retardation and a large deletion of 2.3 Mb encompassing 10 genes, all patients had stereotyped clinical features, characterized by pure Dopa-responsive dystonia with onset in the lower limbs and an excellent response to low doses of l-Dopa. Dystonia started in the first decade of life in 40 patients (85%) and before the age of 1 year in one patient (2.2%). Three of the 17 negative GCH1 patients had mutations in the TH gene, two in the SPR gene and one in the PARK2 gene. No mutations in the three genes involved in the biosynthesis and rec
18. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia
- Author
-
Clot, Fabienne, Grabli, David, Cazeneuve, Cécile, Roze, Emmanuel, Castelnau, Pierre, Chabrol, Brigitte, Landrieu, Pierre, Nguyen, Karine, Ponsot, Gérard, Abada, Myriem, Doummar, Diane, Damier, Philippe, Gil, Roger, Thobois, Stéphane, Ward, Alana J., Hutchinson, Michael, Toutain, Annick, Picard, Fabienne, Camuzat, Agnès, Fedirko, Estelle, Sân, Chankannira, Bouteiller, Delphine, LeGuern, Eric, Durr, Alexandra, Vidailhet, Marie, Brice, Alexis, Clot, Fabienne, Grabli, David, Cazeneuve, Cécile, Roze, Emmanuel, Castelnau, Pierre, Chabrol, Brigitte, Landrieu, Pierre, Nguyen, Karine, Ponsot, Gérard, Abada, Myriem, Doummar, Diane, Damier, Philippe, Gil, Roger, Thobois, Stéphane, Ward, Alana J., Hutchinson, Michael, Toutain, Annick, Picard, Fabienne, Camuzat, Agnès, Fedirko, Estelle, Sân, Chankannira, Bouteiller, Delphine, LeGuern, Eric, Durr, Alexandra, Vidailhet, Marie, and Brice, Alexis
- Abstract
Dopa-responsive dystonia is a childhood-onset dystonic disorder, characterized by a dramatic response to low dose of l-Dopa. Dopa-responsive dystonia is mostly caused by autosomal dominant mutations in the GCH1 gene (GTP cyclohydrolase1) and more rarely by autosomal recessive mutations in the TH (tyrosine hydroxylase) or SPR (sepiapterin reductase) genes. In addition, mutations in the PARK2 gene (parkin) which causes autosomal recessive juvenile parkinsonism may present as Dopa-responsive dystonia. In order to evaluate the relative frequency of the mutations in these genes, but also in the genes involved in the biosynthesis and recycling of BH4, and to evaluate the associated clinical spectrum, we have studied a large series of index patients (n = 64) with Dopa-responsive dystonia, in whom dystonia improved by at least 50% after l-Dopa treatment. Fifty seven of these patients were classified as pure Dopa-responsive dystonia and seven as Dopa-responsive dystonia-plus syndromes. All patients were screened for point mutations and large rearrangements in the GCH1 gene, followed by sequencing of the TH and SPR genes, then PTS (pyruvoyl tetrahydropterin synthase), PCBD (pterin-4a-carbinolamine dehydratase), QDPR (dihydropteridin reductase) and PARK2 (parkin) genes. We identified 34 different heterozygous point mutations in 40 patients, and six different large deletions in seven patients in the GCH1 gene. Except for one patient with mental retardation and a large deletion of 2.3 Mb encompassing 10 genes, all patients had stereotyped clinical features, characterized by pure Dopa-responsive dystonia with onset in the lower limbs and an excellent response to low doses of l-Dopa. Dystonia started in the first decade of life in 40 patients (85%) and before the age of 1 year in one patient (2.2%). Three of the 17 negative GCH1 patients had mutations in the TH gene, two in the SPR gene and one in the PARK2 gene. No mutations in the three genes involved in the biosynthesis and rec
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