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