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