Mutation at the SCA17 locus is not a common cause of parkinsonism

Parkinsonism and Related Disorders

Volumn 9, Issue 6, 2003, Pages 317-320

  Hernandez, Dena ^a   Hanson, Melissa ^a   Singleton, Amanda ^b   Gwinn Hardy, Katrina ^b   Freeman, Jason ^a   Ravina, Bernard ^b   Doheny, Dana ^c   Gallardo, Marisol ^d   Weiser, Roberto ^d   Hardy, John ^a   Singleton, Andrew ^a  

^a NATIONAL INSTITUTE ON AGING   (United States)

^b NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^c MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^d HOSPITAL UNIVERSITARIO DE CARACAS   (Venezuela)

Author keywords

Ataxia; Parkinsonism; SCA17; TATA binding protein; Triplet repeat

Indexed keywords

ADULT; AGED; ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; NUCLEOTIDE REPEAT; PARKINSONISM; PATHOGENICITY; PRIORITY JOURNAL; SPINOCEREBELLAR DEGENERATION;

EID: 0038692195     PISSN: 13538020     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1353-8020(03)00027-0     Document Type: Article

References (19)

1. Nakamura K., Jeong S.Y., Uchihara T., Anno M., Nagashima K., Nagashima T., Ikeda S., Tsuji S., Kanazawa I. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum Mol Genet. 10:(14):2001;1441-1448.
2. Matsuura T., Yamagata T., Burgess D.L., Rasmussen A., Grewal R.P., Watase K., Khajavi M., McCall A.E., Davis C.F., Zu L., Achari M., Pulst S.M., Alonso E., Noebels J.L., Nelson D.L., Zoghbi H.Y., Ashizawa T. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet. 26:(2):2000;191-194.
3. Perutz M.F. Glutamine repeats and neurodegenerative diseases. Brain Res Bull. 50:(5/6):1999;467.
4. Holmes S.E., O'Hearn E.E., McInnis M.G., Gorelick-Feldman D.A., Kleiderlein J.J., Callahan C., Kwak N.G., Ingersoll-Ashworth R.G., Sherr M., Sumner A.J., Sharp A.H., Ananth U., Seltzer W.K., Boss M.A., Vieria-Saecker A.M., Epplen J.T., Riess O., Ross C.A., Margolis R.L. Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12. Nat Genet. 23:(4):1999;391-392.
5. Orr H.T., Chung M.Y., Banfi S., Kwiatkowski T.J. Jr, Servadio A., Beaudet A.L., McCall A.E., Duvick L.A., Ranum L.P., Zoghbi H.Y. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet. 4:(3):1993;221-226.
6. Imbert G., Saudou F., Yvert G., Devys D., Trottier Y., Garnier J.M., Weber C., Mandel J.L., Cancel G., Abbas N., Durr A., Didierjean O., Stevanin G., Agid Y., Brice A. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet. 14:(3):1996;285-291.
7. Koob M.D., Moseley M.L., Schut L.J., Benzow K.A., Bird T.D., Day J.W., Ranum L.P. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet. 21:(4):1999;379-384.
8. Tang B., Liu C., Shen L., Dai H., Pan Q., Jing L., Ouyang S., Xia J. Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds. Arch Neurol. 57:(4):2000;540-544.
9. Koide R., Kobayashi S., Shimohata T., Ikeuchi T., Maruyama M., Saito M., Yamada M., Takahashi H., Tsuji S. A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease? Hum Mol Genet. 8:(11):1999;2047-2053.
10. Silveira I., Miranda C., Guimaraes L., Moreira M.C., Alonso I., Mendonca P., Ferro A., Pinto-Basto J., Coelho J., Ferreirinha F., Poirier J., Parreira E., Vale J., Januario C., Barbot C., Tuna A., Barros J., Koide R., Tsuji S., Holmes S.E., Margolis R.L., Jardim L., Pandolfo M., Coutinho P., Sequeiros J. Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus. Arch Neurol. 59:(4):2002;623-629.
11. Zuhlke C., Hellenbroich Y., Dalski A., Kononowa N., Hagenah J., Vieregge P., Riess O., Klein C., Schwinger E. Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia. Eur J Hum Genet. 9:(3):2001;160-164.
12. Shan D.E., Soong B.W., Sun C.M., Lee S.J., Liao K.K., Liu R.S. Spinocerebellar ataxia type 2 presenting as familial levodopa-responsive parkinsonism. Ann Neurol. 50:(6):2001;812-815.
13. Subramony S.H., Currier R.D. Intrafamilial variability in Machado-Joseph disease. Mov Disord. 11:(6):1996;741-743.
14. Gwinn-Hardy K., Singleton A., O'Suilleabhain P., Boss M., Nicholl D., Adam A., Hussey J., Critchley P., Hardy J., Farrer M. Spinocerebellar ataxia type 3 phenotypically resembling parkinson disease in a black family. Arch Neurol. 58:(2):2001;296-299.
15. Gwinn-Hardy K., Chen J.Y., Liu H.C., Liu T.Y., Boss M., Seltzer W., Adam A., Singleton A., Koroshetz W., Waters C., Hardy J., Farrer M. Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese. Neurology. 55:(6):2000;800-805.
16. Hughes A.J., Daniel S.E., Kilford L., Lees A.J. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry. 55:(3):1992;181-184.
17. Osaki Y., Wenning G.K., Daniel S.E., Hughes A., Lees A.J., Mathias C.J., Quinn N. Do published criteria improve clinical diagnostic accuracy in multiple system atrophy? Neurology. 59:(10):2002;1486-1491.
18. Litvan I., Agid Y., Calne D., Campbell G., Dubois B., Duvoisin R.C., Goetz C.G., Golbe L.I., Grafman J., Growdon J.H., Hallett M., Jankovic J., Quinn N.P., Tolosa E., Zee D.S. Clinical research criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome): report of the NINDS-SPSP international workshop. Neurology. 47:(1):1996;1-9.
19. Subramony S.H., Hernandez D., Adam A., Smith-Jefferson S., Hussey J., Gwinn-Hardy K., Lynch T., McDaniel O., Hardy J., Farrer M., Singleton A. Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians. Mov Disord. 17:(5):2002;1068-1071.