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.
|
Cerebellar atrophy
Dystonia (any or unspecified) Dystonia, limb Ataxia, limb Cerebral atrophy Dystonia, cervical Dysmetric saccades Atrophy/degeneration affecting the brainstem Rigidity Chorea Gait ataxia Mental deterioration Seizures Ataxia Dysarthria Show more (+12) |
Ataxia, limb
Gait ataxia Mental deterioration |
|
No
|
♀
|
O
|
GRC
|
22
|
34
|
n.a.
|
Ataxia
Dysarthria Depression Ataxia, limb Cerebellar atrophy Behavioural abnormality Rigidity Atrophy/degeneration affecting the brainstem Gait ataxia Mental deterioration Show more (+7) |
Gait ataxia
|