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