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