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