Koutsis, 2014: Overview of all reported ATX-TBP patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
♀
O
GRC
25
30
n.a.
Gait ataxia
Dysarthria
Ataxia
Chorea
Ataxia, limb
Mental deterioration
Seizures
Dysmetric saccades
Dystonia, limb
Cerebellar atrophy
Rigidity
Dystonia (any or unspecified)
Atrophy/degeneration affecting the brainstem
Dystonia, cervical
Cerebral atrophy
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Gait ataxia
Ataxia, limb
Mental deterioration
n.a.: het
No
♀
O
GRC
22
34
n.a.
Depression
Dysarthria
Gait ataxia
Ataxia, limb
Rigidity
Behavioural abnormality
Mental deterioration
Cerebellar atrophy
Ataxia
Atrophy/degeneration affecting the brainstem
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Gait ataxia
n.a.: het