Blumkin, 2010: 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
|
7
|
n.a.
|
Emotional stress trigger
Tremor (any or unspecified) Nystagmus Vomiting Gait ataxia Muscular hypotonia Dysarthria Tonic upgaze Hemiplegia Muscle weakness Ataxia Cognitive impairment Ataxia, limb Cerebellar atrophy Seizures Show more (+12) |
n.a.
|