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