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