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