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