Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
TUN
|
n.a.
|
8
|
No
|
Mri brain other abnormalities
Abnormal central motor function Gait disturbance Cerebellar signs Spasticity Hypointensity on basal ganglia and or nigra Cognitive impairment Cerebellar atrophy Pyramidal sign Show more (+6) |
Gait disturbance
|
|
Yes
|
♀
|
n.a.
|
TUN
|
n.a.
|
4
|
No
|
Cognitive impairment
Spasticity Neuromuscular abnormality Optic atrophy Abnormal central motor function Nystagmus Pyramidal sign Muscular hypotonia Dystonia (any or unspecified) Mri brain other abnormalities Cerebellar atrophy Show more (+8) |
n.a.
|