Arrabal, 2011: Overview of all reported DYT/PARK-SPR patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
♀
n.a.
n.a.
n.a.
18
n.a.
Tremor (any or unspecified)
Anxiety
n.a.
No
♀
n.a.
n.a.
n.a.
14
n.a.
Dystonia, limb
Dystonia, focal
Dystonia, task-specific
Dysarthria
Lower limb dystonia
Dystonia (any or unspecified)
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n.a.
Yes
♀
n.a.
n.a.
7
11
n.a.
Rigidity
Tremor (any or unspecified)
Hypotonia
Hyperreflexia
Parkinsonism
Bradykinesia
Myoclonus
Diurnal fluctuations
Dystonia (any or unspecified)
Sleep benefit
Dystonia, focal
Dyskinesia
Dysarthria
Dystonia/Parkinsonism
Dystonia, axial
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n.a.
Yes
♂
n.a.
n.a.
n.a.
2
No
Hypotonia
Autonomic sign/sympt.
Cognitive impairment
Sleep disorder
Developmental delay
Delayed motor development
Intellectual developmental disorder
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Hypotonia
p. Lys251*: hom