Primary dystonia: In search of new genes...

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(1)Primary dystonia: In search of new genes... Melissa Yana Frédéric, Sylvie Tuffery-Giraud, Gwenaëlle Collod-Beroud. To cite this version: Melissa Yana Frédéric, Sylvie Tuffery-Giraud, Gwenaëlle Collod-Beroud. Primary dystonia: In search of new genes.... Pr Mireille Claustres. Molecular Genetic Analysis of Rare Diseases in 2007: Selected examples, S.G. Pandalai and A. Gayathri, pp.59-77, 2007. �inserm-00343976�. HAL Id: inserm-00343976 https://www.hal.inserm.fr/inserm-00343976 Submitted on 4 Dec 2008. HAL is a multi-disciplinary open access archive for the deposit and dissemination of scientific research documents, whether they are published or not. The documents may come from teaching and research institutions in France or abroad, or from public or private research centers.. L’archive ouverte pluridisciplinaire HAL, est destinée au dépôt et à la diffusion de documents scientifiques de niveau recherche, publiés ou non, émanant des établissements d’enseignement et de recherche français ou étrangers, des laboratoires publics ou privés..

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(9) . . . . . . Locus. OMIM. Clinical Features. Age at onset. Inheritance Pattern. Chromosomal location. Gene. References. Dystonia 1; Early-onset torsion dystonia Dystonia 2. 128100. <26 in most cases Childhood. AD Incomplete Penetrance AR. 9q34. TOR-1A. [2; 3]. ?. ?. Dystonia 4; Whispering dystonia Dystonia 6; Adult-onset ITD of mixed type Dystonia 7; Focal adult-onset ITD Dystonia 13; Multifocal/segmental dystonia. 12801. Generalized or focal dystonia usally begining in chilhood in the limbs. Segmental or generalized familial form of dystonia, Spanish gypsy families Laryngeal and cervical dystonia,single large australian family Focal, may become generalized, 2 Mennonites families Adult onset focal dystonia and postural tremor, single German family Focal or segmental,rarely generalized, italian family. 13-37 years. AD. ?. ?. Eldridge personnal communication 1982 [4]. average 19 years 28-70 years. AD Incomplete Penetrance AD Incomplete Penetrance AD Incomplete Penetrance. 8p21-22. ?. [5]. 18p. ?. [6]. 1p36.13-36.32. ?. [7]. GTP CycloHydrolase 1, GCH1 Tyrosine hydroxylase -Sarcoglycan SGCE. [8; 9]. Designation. Primary Dystonia DYT1 DYT2 DYT4 DYT6 DYT7 DYT13. 224500. 602629 602124 607671. 5 years to adult. Dystonia plus syndromes Dystonia 5; Dopa-responsive dystonia-parkinsonism, Segaa syndrome. TH DYT11 DYT12 DYT14. DYT15. 128230. Usually dystonia concurrent or subsequent parkinsonism,diurnal worsening of symptoms, treatable with L-dopa. 191290 Dystonia 11; Myoclonusdystonia Dystonia 12; Rapid-onset dystonia parkinsonism Dystonia 14; Dopa responsive dystonia Dystonia 15; Myoclonic dystonia. 159900 128235 607195. 607488. Myoclonus and or dystonia, alcohol responsive in some patients Acuta or subacute generalized dystonia associated with parkinsonsm Usually dystonia concurrent or subsequent parkinsonism,diurnal worsening of symptoms, treatable with L-dopa Myoclonus and or dystonia, alcohol responsive in some patients,canadian family. variable. AD Incomplete Penetrance. 14q22.1-q22.2. variable. AR. 11p15.5. variable. AD Incomplete Penetrance AD Incomplete Penetrance AD. 7q21. variable. AD. . GCH1. 19q13. ATP1A3. 14q13. ?. 18p11. ?. [10; 11] [12; 13] [14; 15] [16]. [17]. Heredodegenerative dystonia DYT3. Dystonia 3; X-linked dystonia parkinsonism;"Lubag". 314250. Segmental or generalized dystonia frequently associated with parkinson, endemic in phillipines. Adulthood. XR. Xq13.1. multiple transcript system. [18; 19]. variable. AD Incomplete Penetrance AD. 2q33-q35. Myofibrillogenesis regulator-1 MR1. [20-22]. 1p. ?. [23]. AD Incomplete Penetrance. 16p11.2-q12.1. ?. [24]. Paroxysmal dyskinesias DYT8 DYT9 DYT10. Dystonia 8; Paroxysmal nonkinesigenic dyskinesia Dystonia 9; Choreoathetosis Dystonia10; Paroxysmal kinesigenic choreoathetosis. 118800. Attacks of dystonia, chorea and athetosis triggered by stress,alcohol,caffeine,nicotine 601042 Attacks of dystonia,spastic paraplegia, choreoathetosis triggered by exercice, stress, alcohol 128200 Attacks of dystonia,choreoathetosis precipitated by sudden movements. AD: autosomal dominant AR: autosomal recessive. 2-15 years 6-16 years.

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