Bouhouche, 2017: 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.
MAR
12
19
n.a.
Parkinsonism
Dystonia
Motor fluctuations
Bradykinesia
Gait difficulties/falls
Postural instability
Swallowing disorder
Dyskinesia
Rigidity
Tremor (any or unspecified)
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Dystonia
Bradykinesia
Swallowing disorder
p.Trp258*: hom
Yes
n.a.
MAR
13
25
n.a.
Rigidity
Atypical parkinsonism
Parkinsonism
Cognitive decline
Tremor (any or unspecified)
Gait difficulties/falls
Bradykinesia
Postural instability
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Bradykinesia
p.Trp258*: hom