Table 2

Cardinal signs of patients with Perry syndrome with DCTN1 mutations

AuthorsYearCountryMutationsFour cardinal signsOther features
ParkinsonismDepression/
apathy
Weight lossRespiratory symptoms
Perry et al1 4
Wider et al13
Felicio et al24
1975
1990
2009
2014
Canadap.G71R++++Cognitive impairment, autonomic dysfunction, sleep disturbances
Roy et al3
Wider et al13
1988
2009
USAp.T72P++++Frontal signs, cognitive impairment, sleep disturbances
Lechevalier et al5 91992
2005
Francep.G71E++++
Bhatia et al61993Englandp.G71A++Oculomotor disorders, cognitive impairment
Elibol et al7
Saka et al21
2002
2010
Turkeyp.G71R++++Frontal signs, oculomotor disorders, cognitive impairment, sleep disturbances
Tsuboi et al8 38
Mishima et al28
2002
2008
2015
Japanp.G71A++++Punding, impulse control disorders
Wider et al142010Hawaiip.G71A++
Ohshima et al15
Wider et al14
2010
2010
Japanp.Q74P++++Cognitive impairment, autonomic dysfunction, sleep disturbances
Newsway et al222010Englandp.G71R++++Frontal signs, oculomotor disorders, autonomic dysfunction, sleep disturbances
Aji et al232013Englandp.G67D++++Frontal signs, oculomotor disorders, sleep disturbances
Araki et al17
Mishima et al18
2014
2016
Japanp.F52L++++Frontal signs, cognitive impairment, autonomic dysfunction
Caroppo et al162014Francep.G71E++++Frontal signs, oculomotor disorders, cognitive impairment
Chung et al252014Koreap.G67D++++
Chung et al252014Koreap.G71R++++Oculomotor disorders, sleep disturbances
Chung et al252014Koreap.Y78C+Frontal signs, oculomotor disorders
Tacik et al272014New Zealandp.Y78C++++Cognitive impairment
Tacik et al272014USAp.G71R++++
Pretelt et al26
Tacik et al27
2014
2014
Columbiap.G71R++++
Gustavsson et al192016Canadap.K56R+Oculomotor disorders, cognitive impairment
Gustavsson et al192016Taiwanp.K56R+Cognitive impairment