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