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