Ohba, 2013: Overview of all reported PxMD-CACNA1A patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
3
|
20
|
n.a.
|
Cognitive impairment (interictal)
-Limb ataxia (interictal) -Tremor (interictal) Dysarthria Dysarthria (interictal) Cerebellar atrophy Ataxia (interictal) Ataxia, limb Tremor (any or unspecified) Apraxia Muscular hypotonia (interictal) Muscular hypotonia Ataxia Extensor plantar response Seizures (interictal) Seizures Cognitive impairment Show more (+14) |
Seizures
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
1
|
8
|
n.a.
|
Ataxia, limb
Ataxia (interictal) Cognitive impairment -Limb ataxia (interictal) Tremor (any or unspecified) -Tremor (interictal) Seizures (interictal) Cognitive impairment (interictal) Muscular hypotonia (interictal) Cerebellar atrophy Muscular hypotonia Seizures Ataxia Apraxia Hemiplegia Show more (+12) |
n.a.
|