| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
A
|
TWN
|
n.a.
|
49
|
n.a.
|
Vertical supranuclear gaze palsy
Parkinsonism Autonomic dysfunction Dysarthria Mental deterioration Rigidity Walking aids Hot cross bun sign Gait ataxia Supranuclear gaze palsy Muscle weakness Ataxia, limb Slow saccades Postural instability Depression Dysphagia Bradykinesia Pons atrophy Dilated fourth ventricle Ataxia Cerebellar atrophy Atrophy/degeneration affecting the brainstem Hyposmia Behavioural abnormality Show more (+21) |
Parkinsonism
Dysarthria Gait ataxia |