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