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