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