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