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
|
Ataxia, limb
-Limb ataxia (interictal) Ataxia Cognitive impairment (interictal) Ataxia (ictal) Dystonia (any or unspecified) Seizures -Dystonia (interictal) Saccadic smooth pursuit Seizures (interictal) Cognitive impairment Show more (+8) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
29
|
32
|
n.a.
|
-Gait ataxia (interictal)
Diplopia Ataxia (ictal) -Limb ataxia (interictal) Diplopia (interictal) Cerebellar atrophy Gait ataxia Ataxia, limb Ataxia Dysarthria (interictal) Dysarthria Show more (+8) |
n.a.
|