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.
Dystonia (any or unspecified)
Dysmetric saccades
Cerebral atrophy
Ataxia, limb
Cerebellar atrophy
Mental deterioration
Dysarthria
Dystonia, cervical
Dystonia, limb
Gait ataxia
Seizures
Rigidity
Chorea
Ataxia
Atrophy/degeneration affecting the brainstem
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Ataxia, limb
Mental deterioration
Gait ataxia
n.a.: het
No
O
GRC
22
34
n.a.
Rigidity
Dysarthria
Depression
Ataxia, limb
Ataxia
Atrophy/degeneration affecting the brainstem
Behavioural abnormality
Gait ataxia
Mental deterioration
Cerebellar atrophy
Show more (+7)
Gait ataxia
n.a.: het