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