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.
Ataxia, limb
Dysarthria
Gait ataxia
Horizontal supranuclear gaze palsy
Cerebellar atrophy
Vertical supranuclear gaze palsy
Mental deterioration
Behavioural abnormality
Ataxia
Supranuclear gaze palsy
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Gait ataxia
n.a.: het
Yes
n.a.
n.a.
34
39
n.a.
Dystonia (any or unspecified)
Dysmetric saccades
Ataxia, limb
Olivopontocerebellar atrophy
Dystonia, limb
Atrophy/degeneration affecting the brainstem
Gait ataxia
Dysarthria
Cerebral atrophy
Mental deterioration
Head titubation
Cerebellar atrophy
Ataxia
Rigidity
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Gait ataxia
Dysarthria
n.a.: het