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