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