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