Zühlke, 2001: 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
|
DEU
|
n.a.
|
21
|
n.a.
|
Atrophy/degeneration affecting the brainstem
Mental deterioration Rigidity Tremor, kinetic Nystagmus Dysarthria Dysmetric saccades Tremor (any or unspecified) Postural tremor, upper limb Gait ataxia Ataxia, limb Ataxia Autonomic dysfunction Cerebellar atrophy Show more (+11) |
Mental deterioration
Dysarthria Gait ataxia |
|
Yes
|
n.a.
|
C
|
DEU
|
n.a.
|
n.a.
|
n.a.
|
Ataxia
|
n.a.
|
|
No
|
♀
|
C
|
DEU
|
20
|
23
|
n.a.
|
Dystonia (any or unspecified)
Dystonia, cervical Dystonia, limb Head titubation Dysarthria Ataxia Rigidity Ataxia, limb Show more (+5) |
Dystonia, limb
|
|
Yes
|
♀
|
C
|
DEU
|
34
|
47
|
n.a.
|
Dysarthria
Mental deterioration Dysmetric saccades Rigidity Dystonia (any or unspecified) Autonomic dysfunction Ataxia Parkinsonism Cerebellar atrophy Dystonia, limb Spasticity Cerebral atrophy Bradykinesia Postural instability Behavioural abnormality Show more (+12) |
Ataxia
Dystonia, limb Behavioural abnormality |
|
No
|
♀
|
C
|
DEU
|
n.a.
|
49
|
n.a.
|
Ataxia
|
n.a.
|