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