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