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