| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
n.a.
|
39
|
n.a.
|
Dysarthria
Ataxia Gait ataxia |
Gait ataxia
|
|
No
|
♀
|
n.a.
|
n.a.
|
30
|
35
|
n.a.
|
Vertical supranuclear gaze palsy
Cerebellar atrophy Ataxia, limb Supranuclear gaze palsy Ataxia Horizontal supranuclear gaze palsy Behavioural abnormality Gait ataxia Mental deterioration Dysarthria Show more (+7) |
Gait ataxia
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
34
|
39
|
n.a.
|
Atrophy/degeneration affecting the brainstem
Olivopontocerebellar atrophy Dystonia (any or unspecified) Head titubation Dystonia, limb Dysarthria Rigidity Cerebellar atrophy Gait ataxia Cerebral atrophy Ataxia, limb Ataxia Mental deterioration Dysmetric saccades Show more (+11) |
Dysarthria
Gait ataxia |