Mariotti, 2007: Overview of all reported ATX-TBP patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
ITA
|
25
|
45
|
No
|
Psychosis
Bradykinesia Cerebellar atrophy Ataxia, limb Cerebral atrophy Behavioural abnormality Ataxia Spasticity Parkinsonism Quadriplegia Dysarthria Dysphagia Seizures Gait ataxia Show more (+11) |
Behavioural abnormality
|
|
Yes
|
♀
|
C
|
ITA
|
38
|
40
|
n.a.
|
Ataxia, limb
Cerebellar atrophy Ataxia Mental deterioration Cerebral atrophy Gait ataxia Behavioural abnormality Show more (+4) |
Gait ataxia
|
|
Yes
|
♀
|
C
|
ITA
|
36
|
46
|
n.a.
|
Cerebral atrophy
Mental deterioration Gait ataxia Ataxia Cerebellar atrophy Ataxia, limb Show more (+3) |
Gait ataxia
|
|
Yes
|
♂
|
C
|
ITA
|
19
|
25
|
No
|
Chorea
Behavioural abnormality Orofacial dyskinesia Supranuclear gaze palsy Dyskinesia Gait ataxia Vertical supranuclear gaze palsy Cerebral atrophy Slow saccades Mental deterioration Ataxia, limb Ataxia Cerebellar atrophy Show more (+10) |
Behavioural abnormality
|
|
Yes
|
♂
|
C
|
ITA
|
55
|
58
|
n.a.
|
Dysmetric saccades
Gait ataxia Cerebral atrophy Cerebellar atrophy Mental deterioration Atrophy/degeneration affecting the brainstem Ataxia, limb Chorea Dyskinesia Orofacial dyskinesia Ataxia Show more (+8) |
Chorea
|
|
Yes
|
♀
|
C
|
ITA
|
n.a.
|
66
|
n.a.
|
Behavioural abnormality
Ataxia Cerebellar atrophy Gait ataxia Ataxia, limb Chorea Cerebral atrophy Show more (+4) |
n.a.
|
|
Yes
|
♂
|
C
|
ITA
|
55
|
58
|
n.a.
|
Behavioural abnormality
Cerebral atrophy Ataxia Gait ataxia Ataxia, limb Cerebellar atrophy Dysmetric saccades Show more (+4) |
Gait ataxia
|
|
Yes
|
♀
|
C
|
ITA
|
52
|
62
|
n.a.
|
Ataxia
Dysmetric saccades Atrophy/degeneration affecting the brainstem Orofacial dyskinesia Cerebellar atrophy Gait ataxia Chorea Ataxia, limb Mental deterioration Dyskinesia Cerebral atrophy Show more (+8) |
Gait ataxia
|
|
Yes
|
♂
|
C
|
ITA
|
55
|
62
|
No
|
Gait ataxia
Mental deterioration Cerebral atrophy Ataxia Cerebellar atrophy Dyskinesia Behavioural abnormality Episodic dystonia Ataxia, limb Chorea Dystonia (any or unspecified) Dysmetric saccades Show more (+9) |
Behavioural abnormality
|
|
Yes
|
♀
|
C
|
ITA
|
n.a.
|
34
|
n.a.
|
Ataxia
Ataxia, limb Cerebellar atrophy Cerebral atrophy Gait ataxia Mental deterioration Show more (+3) |
n.a.
|