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