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