Bruni, 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.
ITA
22
51
n.a.
Dysarthria
Mental deterioration
Ataxia
Dystonia (any or unspecified)
Cerebellar atrophy
Autonomic dysfunction
Rigidity
Cerebral atrophy
Behavioural abnormality
Psychosis
Motor fluctuations
Show more (+8)
Behavioural abnormality
n.a.: het
No
♀
n.a.
ITA
33
63
n.a.
Dystonia (any or unspecified)
Psychosis
Dysarthria
Cerebellar atrophy
Mental deterioration
Cerebral atrophy
Anxiety
Rigidity
Apathy
Behavioural abnormality
Autonomic dysfunction
Ataxia
Show more (+9)
Behavioural abnormality
n.a.: het
No
♂
n.a.
ITA
20
60
n.a.
Mental deterioration
Apathy
Behavioural abnormality
Ataxia
Psychosis
Dystonia (any or unspecified)
Rigidity
Dysarthria
Autonomic dysfunction
Seizures
Show more (+7)
n.a.
n.a.: het
No
♀
n.a.
ITA
35
44
n.a.
Anxiety
Dystonia (any or unspecified)
Dysarthria
Apathy
Psychosis
Ataxia
Cerebral atrophy
Rigidity
Depression
Cerebellar atrophy
Mental deterioration
Behavioural abnormality
Show more (+9)
Behavioural abnormality
n.a.: het
No
♀
n.a.
ITA
33
42
n.a.
Dysarthria
Cerebral atrophy
Ataxia
Behavioural abnormality
Rigidity
Autonomic dysfunction
Mental deterioration
Cerebellar atrophy
Dystonia (any or unspecified)
Show more (+6)
Behavioural abnormality
n.a.: het
No
♀
n.a.
ITA
53
65
n.a.
Rigidity
Mental deterioration
Autonomic dysfunction
Behavioural abnormality
Dysarthria
Ataxia
Show more (+3)
Behavioural abnormality
n.a.: het
Yes
♀
n.a.
ITA
26
40
n.a.
Cerebellar atrophy
Dysphagia
Myoclonus
Muscle atrophy
Depression
Slow saccades
Rigidity
Dysarthria
Walking aids
Mental deterioration
Seizures
Dystonia, limb
Apathy
Cerebral atrophy
Tremor (any or unspecified)
Autonomic dysfunction
Ataxia
Muscle weakness
Wheelchair
Dystonia (any or unspecified)
Mutism
Behavioural abnormality
Gait ataxia
Show more (+20)
Apathy
Behavioural abnormality
Gait ataxia
n.a.: het