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