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