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