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