Musova, 2013: Overview of all reported ATX-TBP patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
n.a.
n.a.
28
41
n.a.
Ophthalmoparesis
Nystagmus
Tremor, kinetic
Ataxia
Tremor (any or unspecified)
Dysarthria
Gait ataxia
Ataxia, limb
Cerebellar atrophy
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Gait ataxia
n.a.: het
No
n.a.
n.a.
33
36
n.a.
Tremor (any or unspecified)
Dysarthria
Ataxia, limb
Gait ataxia
Tremor, kinetic
Ataxia
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Gait ataxia
n.a.: het
No
n.a.
n.a.
n.a.
57
66
n.a.
Gait ataxia
Ataxia, limb
Dysarthria
Cerebellar atrophy
Ataxia
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Gait ataxia
n.a.: het
No
n.a.
n.a.
n.a.
30
37
n.a.
Ataxia, limb
Gait ataxia
Tremor (any or unspecified)
Ophthalmoparesis
Cerebellar atrophy
Tremor, kinetic
Dysarthria
Ataxia
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Gait ataxia
n.a.: het
No
n.a.
n.a.
n.a.
n.a.
51
n.a.
Ataxia
Cerebellar atrophy
Seizures
Ataxia, limb
Ophthalmoparesis
Dysarthria
Gait ataxia
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n.a.
n.a.: het
No
n.a.
n.a.
n.a.
42
43
n.a.
Dysarthria
Head titubation
Tremor, kinetic
Tremor (any or unspecified)
Gait ataxia
Ataxia
Ataxia, limb
Tremor, head
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Gait ataxia
Tremor, head
n.a.: het