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