ε‐sarcoglycan mutations found in combination with other dystonia gene mutations

Myoclonus‐dystonia is a movement disorder associated with mutations in the ε‐sarcoglycan gene (SGCE) in most families and in the DRD2 and DYT1 genes in two single families. In both of the latter families, we also found a mutation of SGCE. The molecular mechanisms through which the detected mutations may contribute to myoclonus‐dystonia remain to be determined.

[1]  M. Anvret,et al.  Phenotypic variation in a family with mutations in two Hirschsprung-related genes (RET and endothelin receptor B) , 1998, Human Genetics.

[2]  Stephen J. Fink,et al.  Evaluation of the role of the D2 dopamine receptor in myoclonus dystonia , 2000, Annals of neurology.

[3]  N. Risch,et al.  The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein , 1997, Nature Genetics.

[4]  A. Chakravarti,et al.  Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient , 1996, Nature Genetics.

[5]  T. Meitinger,et al.  Mutations in the gene encoding ɛ-sarcoglycan cause myoclonus–dystonia syndrome , 2001, Nature Genetics.

[6]  S Fahn,et al.  Association of a missense change in the D2 dopamine receptor with myoclonus dystonia. , 1999, Proceedings of the National Academy of Sciences of the United States of America.

[7]  Y. Agid,et al.  D2 dopamine receptor gene in myoclonic dystonia and essential myoclonus , 2000, Annals of neurology.

[8]  E. Engvall,et al.  Sarcoglycan Isoforms in Skeletal Muscle* , 1999, The Journal of Biological Chemistry.

[9]  T. Gasser.  Inherited myoclonus-dystonia syndrome. , 1998, Advances in neurology.

[10]  A. Saiardi,et al.  Dopamine D2 receptors in signal transduction and behavior. , 1997, Critical reviews in neurobiology.

[11]  D. Jennings,et al.  Localization of a gene for myoclonus‐dystonia to chromosome 7q21‐q31 , 1999, Annals of neurology.

[12]  T. Dryja,et al.  Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa. , 1997, Investigative ophthalmology & visual science.

[13]  M. Brin,et al.  A major locus for myoclonus-dystonia maps to chromosome 7q in eight families. , 2000, American journal of human genetics.

[14]  P. S. St George-Hyslop,et al.  Inherited myoclonus‐dystonia: Evidence supporting genetic heterogeneity , 2001, Movement disorders : official journal of the Movement Disorder Society.

[15]  T. Meitinger,et al.  Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. , 2001, Nature genetics.

[16]  Y. Agid,et al.  A major locus for several phenotypes of myoclonus–dystonia on chromosome 7q , 2001, Neurology.

[17]  D. von Allmen,et al.  The genetics of Hirschsprung disease. , 2003, Gastroenterology clinics of North America.

[18]  Christine Klein,et al.  Novel mutation in the TOR1A (DYT1) gene in atypical, early onset dystonia and polymorphisms in dystonia and early onset parkinsonism , 2001, Neurogenetics.

[19]  M. Dichgans,et al.  Inherited myoclonus‐dystonia syndrome: Narrowing the 7q21‐q31 locus in German families , 2001, Annals of neurology.

[20]  T. Dryja,et al.  Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. , 1994, Science.