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