Maltecca, 2003: Overview of all reported ATX-TBP patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
ITA
34
44
n.a.
Cerebellar atrophy
Slow saccades
Autonomic dysfunction
Dysarthria
Dysphagia
Hearing impairment
Orofacial dyskinesia
Ataxia
Dystonia (any or unspecified)
Chorea
Mental deterioration
Depression
Dyskinesia
Gait ataxia
Sensation alterations
Hot cross bun sign
Spasticity
Cerebral atrophy
Ataxia, limb
Behavioural abnormality
Show more (+17)
Ataxia
n.a.: het
Yes
n.a.
ITA
23
32
n.a.
Slow saccades
Mental deterioration
Cerebral atrophy
Depression
Dyskinesia
Dysarthria
Autonomic dysfunction
Orofacial dyskinesia
Cerebellar atrophy
Chorea
Ataxia, limb
Gait ataxia
Dystonia (any or unspecified)
Seizures
Ataxia
Behavioural abnormality
Show more (+13)
Mental deterioration
Ataxia
n.a.: het
Yes
n.a.
ITA
3
14
n.a.
Mental deterioration
Muscle atrophy
Reduced visual acuity
Head titubation
Dyskinesia
Autonomic dysfunction
Cerebellar atrophy
Seizures
Dystonia (any or unspecified)
Gait ataxia
Orofacial dyskinesia
Slow saccades
Muscle weakness
Dysphagia
Spasticity
Cerebral atrophy
Behavioural abnormality
Ataxia, limb
Ataxia
Depression
Chorea
Hearing impairment
Dystonia, limb
Dysarthria
Show more (+21)
Dystonia (any or unspecified)
Ataxia
Dysarthria
n.a.: het
Yes
n.a.
ITA
35
44
n.a.
Ataxia, limb
Ataxia
Dystonia (any or unspecified)
Hearing impairment
Gait ataxia
Depression
Dysphagia
Chorea
Autonomic dysfunction
Dyskinesia
Seizures
Cerebellar atrophy
Sensation alterations
Behavioural abnormality
Orofacial dyskinesia
Mental deterioration
Spasticity
Slow saccades
Cerebral atrophy
Dysarthria
Show more (+17)
Ataxia
n.a.: het