Rolfs, 2003: Overview of all reported ATX-TBP patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
DEU
|
n.a.
|
60
|
n.a.
|
Depression
|
||
No
|
♂
|
n.a.
|
DEU
|
18
|
20
|
n.a.
|
Slow saccades
Dysarthria |
Dysarthria
|
|
No
|
♀
|
n.a.
|
DEU
|
18
|
38
|
n.a.
|
Mutism
Tremor (any or unspecified) Hypogonadotropic hypogonadism Cerebellar atrophy Tremor, kinetic Dysarthria Ataxia Ataxia, limb Mental deterioration Gait ataxia Nystagmus Dysphagia Show more (+9) |
Mental deterioration
Gait ataxia |
|
No
|
♂
|
n.a.
|
DEU
|
18
|
44
|
n.a.
|
Apraxia
Dysarthria Dysphagia Ataxia Gait ataxia Cerebral atrophy Ataxia, limb Cerebellar atrophy Mental deterioration Show more (+6) |
Ataxia
Mental deterioration |
|
No
|
♀
|
n.a.
|
DEU
|
n.a.
|
42
|
n.a.
|
Chorea
Gait ataxia Ataxia Slow saccades Dystonia (any or unspecified) Autonomic dysfunction Dysarthria Dysphagia Mental deterioration Behavioural abnormality Cerebral atrophy Cerebellar atrophy Ataxia, limb Apraxia Psychosis Show more (+12) |
Psychosis
|
|
No
|
♂
|
n.a.
|
DEU
|
43
|
45
|
n.a.
|
Gait ataxia
|
||
No
|
♀
|
n.a.
|
DEU
|
n.a.
|
47
|
n.a.
|
Dystonia (any or unspecified)
Postural tremor, upper limb Mental deterioration Chorea Depression Psychosis Behavioural abnormality Gait ataxia Apraxia Dysphagia Atrophy/degeneration affecting the brainstem Ataxia, limb Cerebellar atrophy Slow saccades Cerebral atrophy Ataxia Dysarthria Show more (+14) |
Depression
Psychosis |
|
No
|
♂
|
n.a.
|
DEU
|
23
|
26
|
n.a.
|
Dysarthria
Gait ataxia |
||
Yes
|
♂
|
n.a.
|
DEU
|
18
|
51
|
n.a.
|
Olivopontocerebellar atrophy
Ataxia, limb Ataxia Cerebellar atrophy Dystonia (any or unspecified) Show more (+2) |
Ataxia
|
|
Yes
|
♀
|
n.a.
|
DEU
|
30
|
68
|
n.a.
|
Ataxia
Bradykinesia Dysarthria Postural tremor, upper limb Cerebral atrophy Cerebellar atrophy Behavioural abnormality Parkinsonism Spasticity Muscle weakness Atrophy/degeneration affecting the brainstem Gait ataxia Depression Show more (+10) |
Dysarthria
Depression |