Overview of included studies for DYT/PARK-CP:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% ♂) 		Mean AAO (+/- SD) Reported mutations
Kassubek, 2017 Case report/Case series 1 n.a. 0% n.a. p.Ala350Asp: hom
Vroegindeweij, 2017 Case report/Case series 5 C 80% 48(+/-6) p.Gly650Arg: hom
Poli, 2017 Case report/Case series 1 n.a. 100% n.a. p.Leu897Aspfs*27
+ p.Trp283*: comp. het.
Kang, 2016 Case report/Case series 1 n.a. 0% 50 c.1864+1G>C: n.a.
Bove, 2015 Case report/Case series 1 C 0% 53 p.Tyr420*: hom
Melgari, 2015 Case report/Case series 1 C 0% n.a. c.(2077+1_2078-1)_(2285+1_2286-1)del: hom
Pan, 2011 Case report/Case series 1 A 0% 46 p.Trp283Ser: hom
Bethlehem, 2010 Case report/Case series 1 n.a. 0% n.a. p.Gly650Arg: hom
Hida, 2010 Case report/Case series 1 A 0% 51 p.Trp1036*: hom
Finkenstedt, 2010 Family study 2 n.a. 50% n.a. c.2554+1G>T: hom
Fasano, 2008 Sib pair study 1 C 100% 48 p.Tyr420*: hom
Haemers, 2004 Case report/Case series 1 C 0% 57 c.146+1G>A
+ p.Gly868Glufs*26: 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
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