Mutations in GNAL: A novel cause of craniocervical dystonia

JAMA Neurology

Volumn 71, Issue 4, 2014, Pages 490-494

  Kumar, Kishore R ^a,b   Lohmann, Katja ^a   Masuho, Ikuo ^c   Miyamoto, Ryosuke ^d   Ferbert, Andreas ^e   Lohnau, Thora ^a   Kasten, Meike ^a   Hagenah, Johann ^a   Brüggemann, Norbert ^a   Graf, Julia ^a   Münchau, Alexander ^a,f   Kostic, Vladimir S ^g   Sue, Carolyn M ^b   Domingo, Aloysius R ^a,h   Rosales, Raymond L ⁱ   Lee, Lilian V ^j   Freimann, Karen ^a   Westenberger, Ana ^a   Mukai, Youhei ^d   Kawarai, Toshitaka ^d   Kaji, Ryuji ^d   Klein, Christine ^a   Martemyanov, Kirill A ^c   Schmidt, Alexander ^a   more..

^a UNIVERSITY OF LÜBECK   (Germany)

^b ROYAL NORTH SHORE HOSPITAL   (Australia)

^c SCRIPPS RESEARCH INSTITUTE   (United States)

^d UNIVERSITY OF TOKUSHIMA   (Japan)

^e KLINIKUM KASSEL   (Germany)

^f UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^g UNIVERSITY OF BELGRADE   (Serbia)

^h PHILIPPINE GENERAL HOSPITAL   (Philippines)

ⁱ UNIVERSITY OF SANTO TOMAS HOSPITAL   (Philippines)

^j Philippine Children's Medical Center   (Philippines)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; DOPAMINE 1 RECEPTOR; GLYCINE; SERINE; THREONINE;

ADULT; AGED; ARTICLE; BIOLUMINESCENCE RESONANCE ENERGY TRANSFER; CERVICAL DYSTONIA; CONTROLLED STUDY; CRANIOCERVICAL DYSTONIA; ETHNICITY; EXON; FEMALE; GENE; GENETIC VARIABILITY; GERMANY; GNAL GENE; HETEROZYGOSITY; HUMAN; HYPOSMIA; JAPAN; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PARKINSON DISEASE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SERBIA; TARDIVE DYSKINESIA; VERY ELDERLY; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; AMINO ACID SEQUENCE; CHILD; FEMALE; GERMANY; GTP-BINDING PROTEIN ALPHA SUBUNITS; HUMANS; JAPAN; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; SERBIA; TORTICOLLIS; YOUNG ADULT;

EID: 84899031959     PISSN: 21686149     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaneurol.2013.4677     Document Type: Article

References (14)

1. Fuchs T, Saunders-Pullman R, Masuho I, et al. Mutations in GNAL cause primary torsion dystonia. Nat Genet. 2013;45(1): 88-92.
2. Vemula SR, Puschmann A, Xiao J, et al. Role of Gα(olf) in familial and sporadic adult-onset primary dystonia. Hum Mol Genet. 2013;22(12): 2510-2519.
3. Nasir J, Frima N, Pickard B, MalloyMP, Zhan L, Grunewald R. Unbalanced whole arm translocation resulting in loss of 18p in dystonia. Mov Disord. 2006;21(6): 859-863. (Pubitemid 44028309)
4. Corvol JC, Studler JM, Schonn JS, Girault JA, Herve D. Gαolf is necessary for coupling D1 and A2a receptors to adenylyl cyclase in the striatum. J Neurochem. 2001;76(5): 1585-1588. (Pubitemid 32198262)
5. Jones DT, Reed RR. Golf: an olfactory neuron specific-G protein involved in odorant signal transduction. Science. 1989;244(4906): 790-795. (Pubitemid 19163862)
6. Belluscio L, Gold GH, Nemes A, Axel R.Mice deficient in Golf are anosmic. Neuron. 1998;20(1): 69-81. (Pubitemid 28078350)
7. Corradi JP, Ravyn V, Robbins AK, et al. Alternative transcripts and evidence of imprinting of GNAL on 18p11.2. Mol Psychiatry. 2005;10(11): 1017-1025. (Pubitemid 41541987)
8. Burke RE, Fahn S, Marsden CD, Bressman SB, Moskowitz C, Friedman J. Validity and reliability of a rating scale for the primary torsion dystonias. Neurology. 1985;35(1): 73-77. (Pubitemid 15193623)
9. Nasreddine ZS, Phillips NA, Bedirian V, et al. The Montreal Cognitive Assessment (MoCA): A brief screening tool formild cognitive impairment. J Am Geriatr Soc. 2005;53(4): 695-699. (Pubitemid 41623495)
10. Furukawa M, Kamide M, Miwa T, Umeda R. Significance of intravenous olfaction test using thiamine propyldisulfide (Alinamin) in olfactometry. Auris Nasus Larynx. 1988;15(1): 25-31.
11. Lohmann K, Uflacker N, Erogullari A, et al. Identification and functional analysis of novel THAP1 mutations. Eur J Hum Genet. 2012;20(2): 171-175.
12. Xiao J, Uitti RJ, Zhao Y, et al. Mutations in CIZ1 cause adult onset primary cervical dystonia. Ann Neurol. 2012;71(4): 458-469.
13. Charlesworth G, Plagnol V, Holmstrom KM, et al. Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. Am J Hum Genet. 2012;91(6): 1041-1050.
14. Lohmann K, Wilcox WR, Winkler S, et al. Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene [published online December 13, 2012]. Ann Neurol. doi:10.1002/ana.23829.