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