Clot, 2009: Overview of all reported DYT/PARK-SPR patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
n.a.
6
13
n.a.
Dystonia, generalized
Dystonia, axial
Oculogyric crisis
Diurnal fluctuations
Developmental delay
Dystonia, limb
Cognitive impairment
Intellectual developmental disorder
Dystonia (any or unspecified)
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Dystonia (any or unspecified)
c.596-2A>G: hom