Methods for diagnosing episodic movement disorders and...

Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid

Reexamination Certificate

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Reexamination Certificate

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07727719

ABSTRACT:
The present invention provides compositions and methods for research, diagnostic, drug screening, and therapeutic applications related to paroxysmal dystonic choreoathetosis and related conditions. In particular, the present invention provides mutations in the myofibrillogenesis regulator 1 (MR-1) gene associated with such conditions.

REFERENCES:
Li et al., Characterization of MR-1, a novel myofibrillogenesis regulator in human muscle, Jun. 22, 2004, Acta Biochimica et Biophysica Sinica, 36(6):412-418.
Muller et al., Clinical and molecular genetics of primary dystonias, 1998, Neurogenetics, 1:165-177.
Web site http://dictionary.reference.com/browse/diagnostic accessed Apr. 30, 2008, 1 page.
Lee et al, Human Molecular Genetics, 2004 v13 pp. 3161-3170.
Rainier et al, Arch Neurol, 2004, pp. 1025-1029.
Partridge et al, Journal of Cereal Science,2002, v35 pp. 189-200.
Skvortsova et al (European Journal of Human Genetics v12 2004 pp. 241-244).
Fink et al., “Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q,” Am J Hum Genet. 1996, 59:140-145.
Fouad et al., “A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q.,” Am J Hum Genet. 1996, 59:135-139.
Jarman et al., “Paroxysmal dystonic choreoathetosis. Genetic linkage studies in a British family,” Brain. 1997, 120:2125-2130.
Matsuo et al., “Familial paroxysmal dystonic choreoathetosis: clinical findings in a large Japanese family and genetic linkage to 2q,” Arch Neurol. 1999, 56:721-726.
Hofele et al., “Gene locus FPD1 of the dystonic Mount-Reback type of autosomal-dominant paroxysmal choreoathetosis,” Neurology. 1997, 49:1252-1257.
Przuntek et al., “TTherapeutic aspects of kinesiogenic paroxysmal choreoathetosis and familial paroxysmal choreoathetosis of the Mount and Reback type,” J Neurol. 1983, 230:163-169.
Raskind et al., “Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34,” Hum Genet. 1998, 102:93-97.
Bohnen et al., “(+)-alpha-[11C]Dihydrotetrabenazine PET imaging in familial paroxysmal dystonic choreoathetosis,” Neurology. 1999, 52:1067-1069.
Grunder et al., “Acid-sensing ion channel (ASIC) 4 gene: physical mapping, genomic organisation, and evaluation as a candidate for paroxysmal dystonia,” Eur J Hum Genet. 2001, 9:672-676.
Tokarz D., et al., “Mutation analysis of two candidate genes in the paroxysmal dystonic choreoathetosis locus on chromosome 2q,” Am J Hum Genet. 2001, 69:629.
Rainier et al., “NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6),” AmJ Hum Genet. 2003, 73:967-971.
Zhao et al., “Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia,”Nat Genet. 2001, 29:326-331.
Fink et al., “Paroxysmal dystonic choreoathetosis linked to chromosome 2q: clinical analysis and proposed pathophysiology.,” Neurology. 1997, 49:177-183.

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