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