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