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