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