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