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