Craig, 2005: Overview of all reported ATX-TBP patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
n.a.
n.a.
39
n.a.
Gait ataxia
Ataxia
Dysarthria
Gait ataxia
n.a.: het
No
n.a.
n.a.
30
35
n.a.
Gait ataxia
Supranuclear gaze palsy
Mental deterioration
Cerebellar atrophy
Ataxia
Dysarthria
Vertical supranuclear gaze palsy
Behavioural abnormality
Horizontal supranuclear gaze palsy
Ataxia, limb
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Gait ataxia
n.a.: het
Yes
n.a.
n.a.
34
39
n.a.
Cerebral atrophy
Ataxia, limb
Dysarthria
Ataxia
Dystonia (any or unspecified)
Head titubation
Rigidity
Dystonia, limb
Atrophy/degeneration affecting the brainstem
Mental deterioration
Cerebellar atrophy
Dysmetric saccades
Olivopontocerebellar atrophy
Gait ataxia
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Dysarthria
Gait ataxia
n.a.: het