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