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