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