Strupp, 2004: 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.
|
14
|
26
|
No
|
Nystagmus (interictal)
Cerebellar atrophy Nausea Vomiting (ictal) Tremor (any or unspecified) -Tremor (interictal) Nystagmus Seizures -Visual blurring (ictal) Ataxia (ictal) Visual blurring (interictal) Ataxia Nausea (ictal) Vomiting Physical stress trigger Visual blurring Show more (+13) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
17
|
51
|
n.a.
|
-Gait ataxia (interictal)
Ataxia Ataxia, limb (ictal) Nystagmus (interictal) -Gait ataxia (ictal) Emotional stress trigger Nystagmus Alcohol trigger Visual blurring Physical stress trigger Gait ataxia Cerebellar atrophy Visual blurring (interictal) Ataxia (ictal) Ataxia, limb Show more (+12) |
n.a.
|