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