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