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