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