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