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