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