Debray, 2008: Overview of all reported PxMD-PDHA1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
1
|
20
|
Yes
|
-Spasticity (ictal)
-Gait ataxia (interictal) -Gait ataxia (ictal) Seizures (interictal) Dysarthria Spasticity Tremor (any or unspecified) Ataxia (interictal) Dysphagia Ataxia Headache (ictal) Ataxia (ictal) Gait ataxia Headache -Hemiplegia (interictal) Dysarthria (interictal) Hemiplegia Respiratory distress -Spasticity (interictal) Seizures -Tremor (interictal) Show more (+18) |
Ataxia
|
|
No
|
♂
|
n.a.
|
n.a.
|
3
|
21
|
Yes
|
Spasticity
Ataxia Dysarthria Cognitive impairment Global development delay Tremor (any or unspecified) Ataxia (ictal) Seizures (interictal) -Spasticity (interictal) -Spasticity (ictal) Seizures Dysarthria (interictal) -Tremor (interictal) Respiratory distress Cognitive impairment (interictal) Show more (+12) |
Ataxia
|