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