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
Ataxia Tremor (any or unspecified) Visual blurring -Visual blurring (ictal) Nausea Cerebellar atrophy Visual blurring (interictal) Nystagmus (interictal) Nausea (ictal) Physical stress trigger Vomiting (ictal) Vomiting Seizures -Tremor (interictal) Ataxia (ictal) Show more (+13) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
17
|
51
|
n.a.
|
Physical stress trigger
-Gait ataxia (ictal) Gait ataxia Ataxia (ictal) Alcohol trigger Emotional stress trigger Visual blurring Cerebellar atrophy Nystagmus (interictal) Ataxia Ataxia, limb (ictal) Visual blurring (interictal) -Gait ataxia (interictal) Ataxia, limb Nystagmus Show more (+12) |
n.a.
|