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