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