Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
NLD
|
14
|
65
|
Yes
|
Dystonia (any or unspecified)
|
||
Yes
|
♂
|
C
|
ITA
|
57
|
60
|
Yes
|
Rigidity
Bradykinesia Parkinsonism Hypermanganesemia Gait difficulties Hypomimia Polycythemia Postural instability T1 hyperintensities on MRI Show more (+6) |
Bradykinesia
Gait difficulties |
|
No
|
♂
|
C
|
ITA
|
47
|
59
|
Yes
|
Parkinsonism
Hypermanganesemia Hypomimia Dysarthria Ferritin disadvantage Gait difficulties Postural instability T1 hyperintensities on MRI Polycythemia Show more (+6) |
Hypomimia
Gait difficulties Postural instability |
|
No
|
♂
|
C
|
NLD
|
2
|
63
|
Yes
|
Polycythemia
Dystonia (any or unspecified) Cognitive impairment T1 hyperintensities on MRI Hypermanganesemia Dystonia, generalized Show more (+3) |
Dystonia (any or unspecified)
|