Table 38.2 Open in new tab Phenotype and...

Table 38.2

Phenotype and results of linkage analysis in large families with exclusively primary late-onset dystonia

Reference	Proband phenotype	Relative phenotype	Linkage analysis
Uitti et al. 1993	CD	CD	DYT1 excluded
Micheli et al. 1994	FHD	FHD, CD	Not checked
Bressman et al. 1996	CD	CD, CD/FHD	DYT1 excluded
Gasser et al. 1996	FHD	FHD	DYT1
Cassetta et al. 1999	BSP	BSP, CD, OMD	DYT1, DYT6, DYT7 excluded
Munchau et al. 2000	CD	BSP, OMD, FHD	DYT1, DYT6, DYT7 excluded
Leube et al. 1996	CD	CD, laryngeal dystonia	DYT7
Brancati et al. 2002	CD	BSP, CD, FHD	DYT1, DYT6, DYT7, DYT13 excluded
Defazio et al. 2003a
Family 1	BSP	BSP	DYT1, DYT6, DYT7, DYT13 excluded
Family 2	BSP	BSP	DYT1, DYT6, DYT7, DYT13 excluded
Jimenez-Jimenez et al. 2002	BSP	BSP, OMD, CD	Not checked
O’Riordan et al. 2004	CD/HD	FHD, CD/FHD	Not checked
Bhidayasiri et al. 2005	FHD	FHD	DYT7

Reference	Proband phenotype	Relative phenotype	Linkage analysis
Uitti et al. 1993	CD	CD	DYT1 excluded
Micheli et al. 1994	FHD	FHD, CD	Not checked
Bressman et al. 1996	CD	CD, CD/FHD	DYT1 excluded
Gasser et al. 1996	FHD	FHD	DYT1
Cassetta et al. 1999	BSP	BSP, CD, OMD	DYT1, DYT6, DYT7 excluded
Munchau et al. 2000	CD	BSP, OMD, FHD	DYT1, DYT6, DYT7 excluded
Leube et al. 1996	CD	CD, laryngeal dystonia	DYT7
Brancati et al. 2002	CD	BSP, CD, FHD	DYT1, DYT6, DYT7, DYT13 excluded
Defazio et al. 2003a
Family 1	BSP	BSP	DYT1, DYT6, DYT7, DYT13 excluded
Family 2	BSP	BSP	DYT1, DYT6, DYT7, DYT13 excluded
Jimenez-Jimenez et al. 2002	BSP	BSP, OMD, CD	Not checked
O’Riordan et al. 2004	CD/HD	FHD, CD/FHD	Not checked
Bhidayasiri et al. 2005	FHD	FHD	DYT7

Reproduced with permission from Defazio G, Berardelli A, Hallett M. Do primary adult-onset focal dystonias share aetiological factors? Brain 2007; 130:1183–93.© Oxford University Press.

BSP = blepharospasm; CD = cervical dystonia; OMD = oromandibular dystonia; FHD = focal hand dystonia.

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