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)
Muscular hypotonia Seizures Cerebellar atrophy Apraxia Dysarthria (interictal) Seizures (interictal) Cognitive impairment Ataxia, limb Ataxia (interictal) Ataxia Dysarthria Tremor (any or unspecified) -Tremor (interictal) Muscular hypotonia (interictal) Extensor plantar response -Limb ataxia (interictal) Show more (+14) |
Seizures
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
1
|
8
|
n.a.
|
Apraxia
Muscular hypotonia (interictal) Seizures Ataxia (interictal) Tremor (any or unspecified) Cognitive impairment (interictal) -Tremor (interictal) Cognitive impairment Ataxia, limb Seizures (interictal) -Limb ataxia (interictal) Cerebellar atrophy Hemiplegia Muscular hypotonia Ataxia Show more (+12) |
n.a.
|