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