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