Overview of included studies for DYT/PARK-CP:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Fasano, 2008 Sib pair study 1 C 100% 48 p.Tyr420*: hom
Haemers, 2004 Case report/Case series 1 C 0% 57 p.Gly868Glufs*26
+ c.146+1G>A: comp. het.
Bosio, 2002 Case report/Case series 1 C 0% 62 p.Gln165Glu
+ p.Asp992Glufs*11: comp. het.
Kohno, 2000 Case report/Case series 1 A 0% 63 p.Asp690Thrfs*20: hom
Yazaki, 1998 Case report/Case series 1 A 0% 49 c.1209-2A>G: hom
Miyajima, 1997 Case report/Case series 1 n.a. 0% 51 p.Asp430Thrfs*36: hom
Kawanami, 1996 Case report/Case series 1 A 100% n.a. p.Trp877*: hom
Takahashi, 1996 Case report/Case series 1 n.a. 0% 45 p.Trp877*: hom
Morita, 1995 Family study 3 A 67% 47(+/-6) c.3019-1G>A: hom