Paisán-Ruiz, 2010: Overview of all reported MxMD-ATP13A2 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
PAK
16
41
n.a.
Behavioral abnormalities
Vertical gaze palsy
Monotonous speech
Atypical parkinsonism
Intellectual developmental disorder
NMS parkinsonism
Dysarthria/anarthria
Bradykinesia
Parkinsonism
Cognitive decline
Gait difficulties/falls
Rigidity
Dystonia
Postural instability
Dyskinesia
Tremor (any or unspecified)
Psychotic sign/sympt.
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Behavioral abnormalities
Intellectual developmental disorder
Bradykinesia
No
n.a.
PAK
18
44
n.a.
Dystonia
Autonomic sign/sympt.
Atypical parkinsonism
Postural tremor
Tremor (any or unspecified)
Intellectual developmental disorder
Dysarthria/anarthria
Incontinence
Dyskinesia
Psychotic sign/sympt.
Postural instability
Parkinsonism
Gait difficulties/falls
NMS parkinsonism
Cognitive decline
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Gait difficulties/falls