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
|
Headache
Hemiplegia -Spasticity (ictal) -Tremor (interictal) Spasticity -Gait ataxia (interictal) Dysphagia Ataxia (interictal) Ataxia Dysarthria Headache (ictal) Gait ataxia Tremor (any or unspecified) Respiratory distress Seizures -Spasticity (interictal) -Gait ataxia (ictal) Ataxia (ictal) Dysarthria (interictal) Seizures (interictal) -Hemiplegia (interictal) Show more (+18) |
Ataxia
|
|
No
|
♂
|
n.a.
|
n.a.
|
3
|
21
|
Yes
|
Seizures
-Spasticity (ictal) -Spasticity (interictal) Spasticity -Tremor (interictal) Tremor (any or unspecified) Ataxia (ictal) Cognitive impairment (interictal) Seizures (interictal) Ataxia Global development delay Respiratory distress Cognitive impairment Dysarthria Dysarthria (interictal) Show more (+12) |
Ataxia
|