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.
Nystagmus
Tremor, kinetic
Ophthalmoparesis
Dysarthria
Ataxia
Tremor (any or unspecified)
Gait ataxia
Cerebellar atrophy
Ataxia, limb
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Gait ataxia
n.a.: het
No
♂
n.a.
n.a.
33
36
n.a.
Ataxia
Tremor (any or unspecified)
Ataxia, limb
Tremor, kinetic
Dysarthria
Gait ataxia
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Gait ataxia
n.a.: het
No
n.a.
n.a.
n.a.
57
66
n.a.
Cerebellar atrophy
Ataxia, limb
Ataxia
Dysarthria
Gait ataxia
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Gait ataxia
n.a.: het
No
n.a.
n.a.
n.a.
30
37
n.a.
Ataxia
Tremor, kinetic
Cerebellar atrophy
Tremor (any or unspecified)
Ophthalmoparesis
Ataxia, limb
Gait ataxia
Dysarthria
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Gait ataxia
n.a.: het
No
n.a.
n.a.
n.a.
n.a.
51
n.a.
Dysarthria
Cerebellar atrophy
Ophthalmoparesis
Ataxia, limb
Seizures
Gait ataxia
Ataxia
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n.a.
n.a.: het
No
n.a.
n.a.
n.a.
42
43
n.a.
Tremor, kinetic
Ataxia, limb
Ataxia
Gait ataxia
Tremor, head
Dysarthria
Tremor (any or unspecified)
Head titubation
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Gait ataxia
Tremor, head
n.a.: het