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