Hagenah, 2004: 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.
DEU
22
23
n.a.
Ataxia
Ataxia, limb
Dystonia, laryngeal
Gait ataxia
Cerebellar atrophy
Dystonia (any or unspecified)
Dystonia, cervical
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Dystonia, laryngeal
Gait ataxia
n.a.: het
Yes
♀
n.a.
DEU
35
n.a.
n.a.
Slow saccades
Muscle weakness
Apathy
Dystonia, limb
Parkinsonism
Ataxia, limb
Ataxia
Dystonia (any or unspecified)
Wheelchair
Cerebellar atrophy
Autonomic dysfunction
Mental deterioration
Tremor, kinetic
Dysarthria
Behavioural abnormality
Spasticity
Cerebral atrophy
Chorea
Gait ataxia
Walking aids
Dysphagia
Bradykinesia
Show more (+19)
Dystonia (any or unspecified)
Chorea
Gait ataxia
n.a.: het
No
♀
n.a.
DEU
20
23
n.a.
Head titubation
Gait ataxia
Ataxia
Ataxia, limb
Dysarthria
Dystonia, limb
Dystonia (any or unspecified)
Show more (+4)
Gait ataxia
Dystonia (any or unspecified)
n.a.: het
No
♀
n.a.
DEU
n.a.
n.a.
n.a.
Ataxia
n.a.
n.a.: het