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