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