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