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 at rest
Micrographia
Sleep benefit
Parkinsonism
Tremor (any or unspecified)
Rigidity
Postural instability
Bradykinesia
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n.a.
p.Gln858*: hom
No
♂
n.a.
IRN
10
21
n.a.
Minimyoclonus
Spasticity/pyramidal signs
Dysarthria/anarthria
Postural instability
Tremor at rest
Rigidity
Dysphagia
Atypical parkinsonism
Tremor (any or unspecified)
Dystonia
Dyskinesia
Bradykinesia
Parkinsonism
Sleep benefit
Micrographia
Saccadic abnormalities
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Bradykinesia
p.Gln858*: hom
Yes
♀
n.a.
IRN
14
24
n.a.
Tremor at rest
Saccadic abnormalities
Tremor (any or unspecified)
Spasticity/pyramidal signs
Micrographia
Dyskinesia
Bradykinesia
Dysarthria/anarthria
Dystonia
Minimyoclonus
Parkinsonism
Postural instability
Sleep benefit
Rigidity
Show more (+11)
Bradykinesia
p.Gln858*: hom