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