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.
Tremor (any or unspecified)
Dyskinesia
Rigidity
Parkinsonism
Motor fluctuations
Dystonia
Gait difficulties/falls
Postural instability
Swallowing disorder
Bradykinesia
Show more (+7)
Dystonia
Swallowing disorder
Bradykinesia
p.Trp258*: hom
Yes
n.a.
MAR
13
25
n.a.
Rigidity
Tremor (any or unspecified)
Parkinsonism
Postural instability
Bradykinesia
Cognitive decline
Atypical parkinsonism
Gait difficulties/falls
Show more (+5)
Bradykinesia
p.Trp258*: hom