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.
|
Cognitive impairment
Migraine Saccadic smooth pursuit Nystagmus (interictal) -Gait ataxia (interictal) -Limb ataxia (interictal) Hemiplegia Ataxia, limb Nystagmus Gait ataxia Cognitive impairment (interictal) Ataxia Show more (+9) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
3
|
51
|
n.a.
|
Tremor (any or unspecified)
Migraine Ataxia, limb Dysarthria -Hemiplegia (ictal) -Tremor (interictal) Dysarthria (interictal) Migraine (ictal) Hemiplegia Ataxia Gait ataxia -Limb ataxia (interictal) -Gait ataxia (interictal) Show more (+10) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
38
|
n.a.
|
Ataxia
Dysarthria Dysarthria (interictal) Migraine Ataxia, limb Gait ataxia -Limb ataxia (interictal) Hemiplegia Saccadic smooth pursuit -Gait ataxia (interictal) Show more (+7) |
n.a.
|
|
No
|
♂
|
n.a.
|
n.a.
|
n.a.
|
18
|
n.a.
|
Gait ataxia
Dysarthria (interictal) Dysarthria -Gait ataxia (interictal) Nystagmus (interictal) Seizures (ictal) Migraine Seizures Ataxia Nystagmus Hemiplegia Show more (+8) |
n.a.
|
|
Yes
|
♂
|
JO
|
n.a.
|
n.a.
|
70
|
n.a.
|
-Limb ataxia (interictal)
-Gait ataxia (interictal) Ataxia Hemiplegia Gait ataxia Ataxia, limb Migraine Show more (+4) |
n.a.
|