Malakouti-Nejad, 2014: 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.
IRN
30
50
No
Sleep benefit
Micrographia
Postural instability
Tremor (any or unspecified)
Rigidity
Bradykinesia
Parkinsonism
Tremor at rest
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n.a.
p.Gln858*: hom
No
n.a.
IRN
10
21
n.a.
Saccadic abnormalities
Atypical parkinsonism
Dysarthria/anarthria
Spasticity/pyramidal signs
Minimyoclonus
Rigidity
Bradykinesia
Sleep benefit
Postural instability
Tremor at rest
Dyskinesia
Dystonia
Parkinsonism
Dysphagia
Micrographia
Tremor (any or unspecified)
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Bradykinesia
p.Gln858*: hom
Yes
n.a.
IRN
14
24
n.a.
Saccadic abnormalities
Dystonia
Tremor at rest
Tremor (any or unspecified)
Sleep benefit
Postural instability
Minimyoclonus
Dysarthria/anarthria
Spasticity/pyramidal signs
Bradykinesia
Parkinsonism
Micrographia
Dyskinesia
Rigidity
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Bradykinesia
p.Gln858*: hom