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
|
Spasticity
Psychosis Ataxia Bradykinesia Behavioural abnormality Dysarthria Seizures Quadriplegia Cerebral atrophy Gait ataxia Dysphagia Cerebellar atrophy Parkinsonism Ataxia, limb Show more (+11) |
Behavioural abnormality
|
|
Yes
|
♀
|
C
|
ITA
|
38
|
40
|
n.a.
|
Mental deterioration
Cerebral atrophy Ataxia Gait ataxia Behavioural abnormality Cerebellar atrophy Ataxia, limb Show more (+4) |
Gait ataxia
|
|
Yes
|
♀
|
C
|
ITA
|
36
|
46
|
n.a.
|
Cerebral atrophy
Ataxia, limb Gait ataxia Ataxia Cerebellar atrophy Mental deterioration Show more (+3) |
Gait ataxia
|
|
Yes
|
♂
|
C
|
ITA
|
19
|
25
|
No
|
Vertical supranuclear gaze palsy
Chorea Cerebellar atrophy Orofacial dyskinesia Slow saccades Ataxia Supranuclear gaze palsy Gait ataxia Behavioural abnormality Mental deterioration Ataxia, limb Cerebral atrophy Dyskinesia Show more (+10) |
Behavioural abnormality
|
|
Yes
|
♂
|
C
|
ITA
|
55
|
58
|
n.a.
|
Cerebellar atrophy
Gait ataxia Dysmetric saccades Ataxia, limb Atrophy/degeneration affecting the brainstem Ataxia Chorea Dyskinesia Mental deterioration Cerebral atrophy Orofacial dyskinesia Show more (+8) |
Chorea
|
|
Yes
|
♀
|
C
|
ITA
|
n.a.
|
66
|
n.a.
|
Ataxia, limb
Cerebellar atrophy Cerebral atrophy Gait ataxia Ataxia Chorea Behavioural abnormality Show more (+4) |
n.a.
|
|
Yes
|
♂
|
C
|
ITA
|
55
|
58
|
n.a.
|
Cerebral atrophy
Gait ataxia Behavioural abnormality Ataxia Cerebellar atrophy Ataxia, limb Dysmetric saccades Show more (+4) |
Gait ataxia
|
|
Yes
|
♀
|
C
|
ITA
|
52
|
62
|
n.a.
|
Mental deterioration
Atrophy/degeneration affecting the brainstem Ataxia, limb Ataxia Gait ataxia Orofacial dyskinesia Cerebral atrophy Chorea Cerebellar atrophy Dyskinesia Dysmetric saccades Show more (+8) |
Gait ataxia
|
|
Yes
|
♂
|
C
|
ITA
|
55
|
62
|
No
|
Chorea
Behavioural abnormality Dyskinesia Ataxia Gait ataxia Cerebellar atrophy Dystonia (any or unspecified) Episodic dystonia Mental deterioration Cerebral atrophy Dysmetric saccades Ataxia, limb Show more (+9) |
Behavioural abnormality
|
|
Yes
|
♀
|
C
|
ITA
|
n.a.
|
34
|
n.a.
|
Ataxia
Cerebellar atrophy Ataxia, limb Cerebral atrophy Gait ataxia Mental deterioration Show more (+3) |
n.a.
|