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