BACKGROUND: Dopa responsive dystonia (DRD) is a disorder characterised by childhood onset dystonia but a wide range of clinical presentations has now been described. OBJECTIVE: To study a large Canadian family with presumed DRD. METHODS: The clinical features of the family were collected before molecular genetic mutational analysis. RESULTS: All nine individuals in whom a clinical diagnosis of DRD was definite or probable were heterozygous for a GCH1 gene deletion. However, eight of nine possibly clinically affected members did not carry the GCH1 mutation. CONCLUSIONS: Great care must be taken in diagnosing DRD even in families with the classic phenotype, because of potential phenocopies of the disease.
BACKGROUND:Dopa responsive dystonia (DRD) is a disorder characterised by childhood onset dystonia but a wide range of clinical presentations has now been described. OBJECTIVE: To study a large Canadian family with presumed DRD. METHODS: The clinical features of the family were collected before molecular genetic mutational analysis. RESULTS: All nine individuals in whom a clinical diagnosis of DRD was definite or probable were heterozygous for a GCH1 gene deletion. However, eight of nine possibly clinically affected members did not carry the GCH1 mutation. CONCLUSIONS: Great care must be taken in diagnosing DRD even in families with the classic phenotype, because of potential phenocopies of the disease.
Authors: Eduardo López-Laso; Juan José Ochoa-Sepúlveda; Juan José Ochoa-Amor; Enrique Bescansa-Heredero; Rafael Camino-León; Francisco Javier Gascón-Jiménez; Maria Elena Mateos-González; Juan Luis Pérez-Navero; José Ignacio Lao-Villadóniga; Aida Ormazabal; Rafael Artuch; Katrin Beyer Journal: J Neurol Date: 2009-06-16 Impact factor: 4.849
Authors: Zheng Fan; Robert Greenwood; Ana C G Felix; Yael Shiloh-Malawsky; Michael Tennison; Myra Roche; Kristy Crooks; Karen Weck; Kirk Wilhelmsen; Jonathan Berg; James Evans Journal: J Neurol Date: 2014-02-08 Impact factor: 4.849
Authors: B Garavaglia; F Invernizzi; M L Agostoni Carbone; V Viscardi; F Saracino; D Ghezzi; M Zeviani; G Zorzi; N Nardocci Journal: J Inherit Metab Dis Date: 2004 Impact factor: 4.982