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