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