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