CHROMOSOMAL ASSIGNMENT OF THE 2ND LOCUS FOR AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA (SCA2) TO CHROMOSOME 12Q23-24.1

被引：313

作者：

GISPERT, S

TWELLS, R

OROZCO, G

BRICE, A

WEBER, J

HEREDERO, L

SCHEUFLER, K

RILEY, B

ALLOTEY, R

NOTHERS, C

HILLERMANN, R

LUNKES, A

KHATI, C

STEVANIN, G

HERNANDEZ, A

MAGARINO, C

KLOCKGETHER, T

DURR, A

CHNEIWEISS, H

ENCZMANN, J

FARRALL, M

BECKMANN, J

MULLAN, M

WERNET, P

AGID, Y

FREUND, HJ

WILLIAMSON, R

AUBURGER, G

CHAMBERLAIN, S

机构：

[1] UNIV HOSP DUESSELDORF, DEPT NEUROL, MOORENSTR 5, W-4000 DUSSELDORF, GERMANY

[2] UNIV LONDON IMPERIAL COLL SCI & TECHNOL, ST MARYS HOSP, SCH MED, DEPT BIOCHEM & MOLEC GENET, LONDON W2 1PG, ENGLAND

[3] NATL CTR MED GENET, HAVANA, CUBA

[4] LENIN HOSP, DEPT NEUROL, HOLGUIN, CUBA

[5] MARSHFIELD MED RES FDN, MARSHFIELD, WI 54449 USA

[6] INST HAEMATOL & IMMUNOL, HAVANA, CUBA

[7] UNIV HOSP TUEBINGEN, DEPT NEUROL, TUBINGEN, GERMANY

[8] UNIV HOSP DUESSELDORF, INST TRANSFUS MED, IMMUNOL LAB, DUSSELDORF, GERMANY

[9] CTR ETUD POLYMORPHISME HUMAIN, F-75010 PARIS, FRANCE

[10] UNIV S FLORIDA, SUNCOAST GERONTOL CTR, TAMPA, FL 33612 USA

[11] ROYAL POSTGRAD MED SCH, DEPT MED, MRC, MOLEC MED GRP, LONDON W12 0HS, ENGLAND

[12] COLL FRANCE, INSERM, U114, F-75231 PARIS 05, FRANCE

[13] HOP LA PITIE SALPETRIERE, INSERM, U289, F-75651 PARIS 13, FRANCE

[14] HOP LA PITIE SALPETRIERE, SERV NEUROL & NEUROPSYCHOL, F-75651 PARIS 13, FRANCE

来源：

NATURE GENETICS | 1993年 / 4卷 / 03期

关键词：

D O I：

10.1038/ng0793-295

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The autosomal dominant cerebellar ataxias (ADCA) are a group of neurodegenerative disorders characterized by onset with gait ataxia, dysarthria, dysmetria and dysdiadochokinesia. We have demonstrated previously genetic heterogeneity within these disorders by excluding the disease locus from the documented spinocerebellar ataxia locus (SCA1) on chromosome 6p in a large Cuban founder population. We now report the assignment of a second locus for ADCA (SCA2) to chromosome 12q23-24.1 following linkage analyses carried out for the Cuban pedigrees, with probable flanking markers D12S58 and phospholipase A2. Investigation of linkage to the interval containing SCA2 for seven French ADCA families, previously excluded from linkage to SCA1, provides preliminary data suggesting the existence of a third ADCA locus (SCA3).

引用

页码：295 / 299

页数：5

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