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