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