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