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.
|
Hypogonadotropic hypogonadism
Gait ataxia Cerebellar atrophy Tremor (any or unspecified) Dysarthria Mutism Tremor, kinetic Ataxia Ataxia, limb Dysphagia Mental deterioration Nystagmus Show more (+9) |
Gait ataxia
Mental deterioration |
|
No
|
♂
|
n.a.
|
DEU
|
18
|
44
|
n.a.
|
Cerebellar atrophy
Dysphagia Ataxia, limb Cerebral atrophy Mental deterioration Dysarthria Gait ataxia Ataxia Apraxia Show more (+6) |
Mental deterioration
Ataxia |
|
No
|
♀
|
n.a.
|
DEU
|
n.a.
|
42
|
n.a.
|
Dysarthria
Dysphagia Slow saccades Ataxia Cerebellar atrophy Gait ataxia Cerebral atrophy Mental deterioration Chorea Apraxia Ataxia, limb Behavioural abnormality Psychosis Dystonia (any or unspecified) Autonomic dysfunction Show more (+12) |
Psychosis
|
|
No
|
♂
|
n.a.
|
DEU
|
43
|
45
|
n.a.
|
Gait ataxia
|
||
No
|
♀
|
n.a.
|
DEU
|
n.a.
|
47
|
n.a.
|
Dysphagia
Ataxia Chorea Cerebral atrophy Gait ataxia Postural tremor, upper limb Mental deterioration Dysarthria Apraxia Behavioural abnormality Slow saccades Dystonia (any or unspecified) Atrophy/degeneration affecting the brainstem Cerebellar atrophy Psychosis Ataxia, limb Depression Show more (+14) |
Psychosis
Depression |
|
No
|
♂
|
n.a.
|
DEU
|
23
|
26
|
n.a.
|
Dysarthria
Gait ataxia |
||
Yes
|
♂
|
n.a.
|
DEU
|
18
|
51
|
n.a.
|
Ataxia, limb
Ataxia Cerebellar atrophy Dystonia (any or unspecified) Olivopontocerebellar atrophy Show more (+2) |
Ataxia
|
|
Yes
|
♀
|
n.a.
|
DEU
|
30
|
68
|
n.a.
|
Depression
Postural tremor, upper limb Atrophy/degeneration affecting the brainstem Behavioural abnormality Parkinsonism Dysarthria Gait ataxia Ataxia Muscle weakness Cerebellar atrophy Cerebral atrophy Bradykinesia Spasticity Show more (+10) |
Depression
Dysarthria |