Balck, 2017: 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.
|
0
|
17
|
No
|
Cognitive impairment
Seizures -Limb ataxia (interictal) -Dystonia (interictal) Saccadic smooth pursuit Ataxia (ictal) Ataxia Seizures (interictal) Ataxia, limb Cognitive impairment (interictal) Dystonia (any or unspecified) Show more (+8) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
29
|
32
|
n.a.
|
-Gait ataxia (interictal)
Diplopia (interictal) Ataxia (ictal) Dysarthria (interictal) Cerebellar atrophy Gait ataxia Dysarthria Ataxia, limb Diplopia -Limb ataxia (interictal) Ataxia Show more (+8) |
n.a.
|