Role of Gα(olf) in familial and sporadic adult-onset primary dystonia

• Published in: Human molecular genetics Vol. 22; no. 12; pp. 2510 - 2519
• Main Authors: Vemula, Satya R., Puschmann, Andreas, Xiao, Jianfeng, Zhao, Yu, Rudzińska, Monika, Frei, Karen P., Truong, Daniel D., Wszolek, Zbigniew K., LeDoux, Mark S.
• Format: Journal Article
• Language: English
• Published: England Oxford University Press 15.06.2013
• Subjects: Adult; Amino Acid Sequence; Basic Medicine; dystonia; Dystonic Disorders - enzymology; Dystonic Disorders - genetics; Female; genetics; GNAL; GTP-Binding Protein alpha Subunits - chemistry; GTP-Binding Protein alpha Subunits - genetics; GTP-Binding Protein alpha Subunits - metabolism; Humans; Male; Medical and Health Sciences; Medical Genetics; Medical Genetics and Genomics (including Gene Therapy); Medicin och hälsovetenskap; Medicinsk genetik; Medicinsk genetik och genomik (Här ingår: Genterapi); Medicinska och farmaceutiska grundvetenskaper; Middle Aged; Molecular Sequence Data; movement disorders; Mutation; neurogenetics; olfaction; Pedigree; Purkinje cell; Sequence Alignment; White People - genetics

The vast majority of patients with primary dystonia are adults with focal or segmental distribution of involuntary movements. Although ~10% of probands have at least one first- or second-degree relative to dystonia, large families suited for linkage analysis are exceptional. After excluding mutation...