Stam, 2008: Overview of all reported PxMD-CACNA1A patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
JO
|
n.a.
|
n.a.
|
27
|
n.a.
|
n.a.
|
||
Yes
|
♂
|
n.a.
|
n.a.
|
n.a.
|
54
|
n.a.
|
Nystagmus (interictal)
Cognitive impairment (interictal) Cognitive impairment Ataxia, limb Saccadic smooth pursuit -Limb ataxia (interictal) -Gait ataxia (interictal) Migraine Nystagmus Ataxia Hemiplegia Gait ataxia Show more (+9) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
3
|
51
|
n.a.
|
-Hemiplegia (ictal)
Migraine (ictal) Migraine Dysarthria Hemiplegia Ataxia Tremor (any or unspecified) Gait ataxia -Limb ataxia (interictal) Dysarthria (interictal) -Tremor (interictal) Ataxia, limb -Gait ataxia (interictal) Show more (+10) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
38
|
n.a.
|
Hemiplegia
Migraine Saccadic smooth pursuit Dysarthria (interictal) Ataxia, limb Dysarthria -Gait ataxia (interictal) Ataxia -Limb ataxia (interictal) Gait ataxia Show more (+7) |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
n.a.
|
18
|
n.a.
|
Nystagmus (interictal)
Hemiplegia Gait ataxia Ataxia Dysarthria (interictal) Nystagmus -Gait ataxia (interictal) Migraine Seizures Seizures (ictal) Dysarthria Show more (+8) |
n.a.
|
|
Yes
|
♂
|
JO
|
n.a.
|
n.a.
|
70
|
n.a.
|
Ataxia
Gait ataxia Ataxia, limb -Limb ataxia (interictal) Hemiplegia -Gait ataxia (interictal) Migraine Show more (+4) |
n.a.
|