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Neurology

Neurology

Guanine nucleotide binding protein a-activating activity polypeptide olfactory type (GNAL)

Human genetic studies suggest mutations in GNAL could cause primary torsion dystonia, a musculoskeletal disorder characterized by repetitive motions and abnormal postures. Exosome sequencing of two families with primary torsion dystonia identified eight different mutations in GNAL that were associated with the condition. Next steps could include screening additional patients for mutations in this gene and developing a model that recapitulates the primary torsion dystonia phenotype.

SciBX 5(49); doi:10.1038/scibx.2012.1292
Published online Dec. 20, 2012

Patent application filed; licensing status undisclosed

Fuchs, T. et al. Nat. Genet.; published online Dec. 9, 2012;
doi:10.1038/ng.2496
Contact: Laurie Ozelius, Mount Sinai School of Medicine, New York, N.Y.
e-mail:

laurie.ozelius@mssm.edu