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