Mariotti, 2007: 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
ITA
25
45
No
Spasticity
Psychosis
Ataxia
Bradykinesia
Behavioural abnormality
Dysarthria
Seizures
Quadriplegia
Cerebral atrophy
Gait ataxia
Dysphagia
Cerebellar atrophy
Parkinsonism
Ataxia, limb
Show more (+11)
Behavioural abnormality
n.a.: het
Yes
C
ITA
38
40
n.a.
Mental deterioration
Cerebral atrophy
Ataxia
Gait ataxia
Behavioural abnormality
Cerebellar atrophy
Ataxia, limb
Show more (+4)
Gait ataxia
n.a.: het
Yes
C
ITA
36
46
n.a.
Cerebral atrophy
Ataxia, limb
Gait ataxia
Ataxia
Cerebellar atrophy
Mental deterioration
Show more (+3)
Gait ataxia
n.a.: het
Yes
C
ITA
19
25
No
Vertical supranuclear gaze palsy
Chorea
Cerebellar atrophy
Orofacial dyskinesia
Slow saccades
Ataxia
Supranuclear gaze palsy
Gait ataxia
Behavioural abnormality
Mental deterioration
Ataxia, limb
Cerebral atrophy
Dyskinesia
Show more (+10)
Behavioural abnormality
n.a.: het
Yes
C
ITA
55
58
n.a.
Cerebellar atrophy
Gait ataxia
Dysmetric saccades
Ataxia, limb
Atrophy/degeneration affecting the brainstem
Ataxia
Chorea
Dyskinesia
Mental deterioration
Cerebral atrophy
Orofacial dyskinesia
Show more (+8)
Chorea
n.a.: het
Yes
C
ITA
n.a.
66
n.a.
Ataxia, limb
Cerebellar atrophy
Cerebral atrophy
Gait ataxia
Ataxia
Chorea
Behavioural abnormality
Show more (+4)
n.a.
n.a.: het
Yes
C
ITA
55
58
n.a.
Cerebral atrophy
Gait ataxia
Behavioural abnormality
Ataxia
Cerebellar atrophy
Ataxia, limb
Dysmetric saccades
Show more (+4)
Gait ataxia
n.a.: het
Yes
C
ITA
52
62
n.a.
Mental deterioration
Atrophy/degeneration affecting the brainstem
Ataxia, limb
Ataxia
Gait ataxia
Orofacial dyskinesia
Cerebral atrophy
Chorea
Cerebellar atrophy
Dyskinesia
Dysmetric saccades
Show more (+8)
Gait ataxia
n.a.: het
Yes
C
ITA
55
62
No
Chorea
Behavioural abnormality
Dyskinesia
Ataxia
Gait ataxia
Cerebellar atrophy
Dystonia (any or unspecified)
Episodic dystonia
Mental deterioration
Cerebral atrophy
Dysmetric saccades
Ataxia, limb
Show more (+9)
Behavioural abnormality
n.a.: het
Yes
C
ITA
n.a.
34
n.a.
Ataxia
Cerebellar atrophy
Ataxia, limb
Cerebral atrophy
Gait ataxia
Mental deterioration
Show more (+3)
n.a.
n.a.: het