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