TY - JOUR
T1 - Clinical and genetic evaluation of a family with a mixed dystonia phenotype from South Tyrol
AU - Klein, Christine
AU - Pramstaller, Peter P.
AU - Castellan, Claudio C.
AU - Breakefield, Xandra O.
AU - Kramer, Patricia L.
AU - Ozelius, Laurie J.
PY - 1998/9/1
Y1 - 1998/9/1
N2 - The gene causing early-onset torsion dystonia (DYT1) has recently been identified, and two new dystonia genes, one for adult-onset focal dystonia (DYT7) and one for a mixed dystonia phenotype (DYT6), have been mapped. We evaluated clinically a family from South Tyrol (Northern Italy) with 6 definitely affected individuals who display an unusually large phenotypic range of dystonic symptoms. We excluded the GAG deletion in the DYT1 gene and linkage to any of the above-mentioned dystonia loci, thus suggesting an as yet undefined dystonia gene in our family.
AB - The gene causing early-onset torsion dystonia (DYT1) has recently been identified, and two new dystonia genes, one for adult-onset focal dystonia (DYT7) and one for a mixed dystonia phenotype (DYT6), have been mapped. We evaluated clinically a family from South Tyrol (Northern Italy) with 6 definitely affected individuals who display an unusually large phenotypic range of dystonic symptoms. We excluded the GAG deletion in the DYT1 gene and linkage to any of the above-mentioned dystonia loci, thus suggesting an as yet undefined dystonia gene in our family.
UR - http://www.scopus.com/inward/record.url?scp=0031714370&partnerID=8YFLogxK
U2 - 10.1002/ana.410440318
DO - 10.1002/ana.410440318
M3 - Journal articles
C2 - 9749609
AN - SCOPUS:0031714370
SN - 0364-5134
VL - 44
SP - 394
EP - 398
JO - Annals of Neurology
JF - Annals of Neurology
IS - 3
ER -
