OBJECTIVE: Inherited myoclonus-dystonia (IMD) is a new term for an autosomal dominant disorder characterized by myoclonus and dystonia. Recently, IMD was linked to a region on chromosome 11q23 with two different mutations identified in the D2 dopamine receptor gene and linked to chromosome 7q with five different loss-of-function mutations identified in the epsilon-sarcoglycan gene. METHODS: These two regions and genes were excluded in a large Canadian family with IMD in whom 13 individuals are affected. A 25-cM genome scan of this large family with 32 individuals was performed. RESULTS: Two-point linkage analysis revealed a maximum lod score of 3.5 (recombination fraction 0.00; affected only) for the microsatellite marker GATA185C06-18 and a multipoint lod score of 3.9 across the 18p11 region. Haplotype analysis demonstrates that all the affected individuals shared a common haplotype between markers D18S1132 and D18S843 that defines the disease gene within a span of 16.9 cM. CONCLUSIONS: These findings indicate that a novel IMD gene exists on chromosome 18p11.
OBJECTIVE: Inherited myoclonus-dystonia (IMD) is a new term for an autosomal dominant disorder characterized by myoclonus and dystonia. Recently, IMD was linked to a region on chromosome 11q23 with two different mutations identified in the D2 dopamine receptor gene and linked to chromosome 7q with five different loss-of-function mutations identified in the epsilon-sarcoglycan gene. METHODS: These two regions and genes were excluded in a large Canadian family with IMD in whom 13 individuals are affected. A 25-cM genome scan of this large family with 32 individuals was performed. RESULTS: Two-point linkage analysis revealed a maximum lod score of 3.5 (recombination fraction 0.00; affected only) for the microsatellite marker GATA185C06-18 and a multipoint lod score of 3.9 across the 18p11 region. Haplotype analysis demonstrates that all the affected individuals shared a common haplotype between markers D18S1132 and D18S843 that defines the disease gene within a span of 16.9 cM. CONCLUSIONS: These findings indicate that a novel IMD gene exists on chromosome 18p11.
Authors: Katja Ritz; Barbera Dc van Schaik; Marja E Jakobs; Antoine H van Kampen; Eleonora Aronica; Marina A Tijssen; Frank Baas Journal: Eur J Hum Genet Date: 2010-12-15 Impact factor: 4.246
Authors: Dennis L Murphy; Pablo R Moya; Meredith A Fox; Liza M Rubenstein; Jens R Wendland; Kiara R Timpano Journal: Philos Trans R Soc Lond B Biol Sci Date: 2013-02-25 Impact factor: 6.237
Authors: R J Beukers; J Booij; N Weisscher; F Zijlstra; T A M J van Amelsvoort; M A J Tijssen Journal: Eur J Nucl Med Mol Imaging Date: 2008-08-22 Impact factor: 9.236
Authors: Jonathan F Russell; Jamie L Steckley; Giovanni Coppola; Angelika F G Hahn; MacKenzie A Howard; Zachary Kornberg; Alden Huang; Seyed M Mirsattari; Barry Merriman; Eric Klein; Murim Choi; Hsien-Yang Lee; Andrew Kirk; Carol Nelson-Williams; Gillian Gibson; Scott C Baraban; Richard P Lifton; Daniel H Geschwind; Ying-Hui Fu; Louis J Ptáček Journal: Ann Neurol Date: 2012-08 Impact factor: 10.422
Authors: Kathryn J Peall; Daniel J Smith; Manju A Kurian; Mark Wardle; Adrian J Waite; Tammy Hedderly; Jean-Pierre Lin; Martin Smith; Alan Whone; Hardev Pall; Cathy White; Andrew Lux; Philip Jardine; Narinder Bajaj; Bryan Lynch; George Kirov; Sean O'Riordan; Michael Samuel; Timothy Lynch; Mary D King; Patrick F Chinnery; Thomas T Warner; Derek J Blake; Michael J Owen; Huw R Morris Journal: Brain Date: 2013-01 Impact factor: 13.501
Authors: Kathryn J Peall; Manju A Kurian; Mark Wardle; Adrian J Waite; Tammy Hedderly; Jean-Pierre Lin; Martin Smith; Alan Whone; Hardev Pall; Cathy White; Andrew Lux; Philip E Jardine; Bryan Lynch; George Kirov; Sean O'Riordan; Michael Samuel; Timothy Lynch; Mary D King; Patrick F Chinnery; Thomas T Warner; Derek J Blake; Michael J Owen; Huw R Morris Journal: J Neurol Date: 2014-09-11 Impact factor: 4.849