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