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