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