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