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