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