Nakamura, 2001: Overview of all reported ATX-TBP patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
♂
A
JPN
n.a.
n.a.
n.a.
Cerebral atrophy
Seizures
Ataxia
Cerebellar atrophy
Mental deterioration
Show more (+2)
n.a.
n.a.: het
Yes
♀
A
JPN
28
n.a.
n.a.
Postural instability
Parkinsonism
Cerebellar atrophy
Mental deterioration
Bradykinesia
Seizures
Cerebral atrophy
Show more (+4)
n.a.
n.a.: het
Yes
♂
A
JPN
19
n.a.
n.a.
Bradykinesia
Parkinsonism
Mental deterioration
Cerebral atrophy
Dystonia (any or unspecified)
Postural instability
Ataxia
Cerebellar atrophy
Show more (+5)
n.a.
n.a.: het
Yes
♀
A
JPN
40
n.a.
n.a.
Seizures
Cerebral atrophy
Parkinsonism
Postural instability
Mental deterioration
Bradykinesia
Chorea
Ataxia
Cerebellar atrophy
Show more (+6)
n.a.
n.a.: het
No
♀
A
JPN
25
n.a.
n.a.
Mental deterioration
Parkinsonism
Cerebellar atrophy
Bradykinesia
Dystonia (any or unspecified)
Ataxia
Postural instability
Cerebral atrophy
Show more (+5)
n.a.
n.a.: het
Yes
♂
A
JPN
48
n.a.
n.a.
Seizures
Postural instability
Mental deterioration
Bradykinesia
Ataxia
Cerebellar atrophy
Chorea
Parkinsonism
Cerebral atrophy
Show more (+6)
n.a.
n.a.: het
No
♂
A
JPN
39
n.a.
n.a.
Cerebral atrophy
Parkinsonism
Bradykinesia
Ataxia
Cerebellar atrophy
Postural instability
Seizures
Mental deterioration
Dystonia (any or unspecified)
Show more (+6)
n.a.
n.a.: het