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