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.
Dysphagia
Cerebellar atrophy
Sensation alterations
Dystonia (any or unspecified)
Dyskinesia
Slow saccades
Autonomic dysfunction
Ataxia
Chorea
Ataxia, limb
Mental deterioration
Orofacial dyskinesia
Hearing impairment
Gait ataxia
Spasticity
Cerebral atrophy
Hot cross bun sign
Depression
Behavioural abnormality
Dysarthria
Show more (+17)
Ataxia
n.a.: het
Yes
n.a.
ITA
23
32
n.a.
Dyskinesia
Cerebral atrophy
Dystonia (any or unspecified)
Dysarthria
Autonomic dysfunction
Mental deterioration
Gait ataxia
Cerebellar atrophy
Slow saccades
Orofacial dyskinesia
Seizures
Chorea
Ataxia, limb
Depression
Ataxia
Behavioural abnormality
Show more (+13)
Mental deterioration
Ataxia
n.a.: het
Yes
n.a.
ITA
3
14
n.a.
Cerebral atrophy
Cerebellar atrophy
Ataxia
Dyskinesia
Hearing impairment
Ataxia, limb
Slow saccades
Dystonia, limb
Dysphagia
Behavioural abnormality
Orofacial dyskinesia
Depression
Mental deterioration
Gait ataxia
Autonomic dysfunction
Dysarthria
Muscle atrophy
Head titubation
Reduced visual acuity
Spasticity
Seizures
Dystonia (any or unspecified)
Muscle weakness
Chorea
Show more (+21)
Ataxia
Dysarthria
Dystonia (any or unspecified)
n.a.: het
Yes
n.a.
ITA
35
44
n.a.
Depression
Dysphagia
Ataxia
Dystonia (any or unspecified)
Dyskinesia
Ataxia, limb
Hearing impairment
Slow saccades
Gait ataxia
Sensation alterations
Chorea
Dysarthria
Autonomic dysfunction
Cerebral atrophy
Mental deterioration
Cerebellar atrophy
Spasticity
Orofacial dyskinesia
Seizures
Behavioural abnormality
Show more (+17)
Ataxia
n.a.: het