| 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
|
Gait difficulties
Postural instability Polycythemia Hypomimia Rigidity T1 hyperintensities on MRI Bradykinesia Hypermanganesemia Parkinsonism Show more (+6) |
Gait difficulties
Bradykinesia |
|
No
|
♂
|
C
|
ITA
|
47
|
59
|
Yes
|
Polycythemia
Postural instability Dysarthria Parkinsonism Gait difficulties Hypomimia Ferritin disadvantage T1 hyperintensities on MRI Hypermanganesemia Show more (+6) |
Postural instability
Gait difficulties Hypomimia |
|
No
|
♂
|
C
|
NLD
|
2
|
63
|
Yes
|
T1 hyperintensities on MRI
Dystonia (any or unspecified) Dystonia, generalized Polycythemia Hypermanganesemia Cognitive impairment Show more (+3) |
Dystonia (any or unspecified)
|