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.
Developmental delay
Diurnal fluctuations
Cognitive impairment
Dystonia, generalized
Dystonia, axial
Dystonia (any or unspecified)
Dystonia, limb
Intellectual developmental disorder
Oculogyric crisis
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Dystonia (any or unspecified)
c.596-2A>G: hom