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