Mantuano, 2010: Overview of all reported PxMD-CACNA1A patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
n.a.
|
17
|
32
|
n.a.
|
Nausea
Ataxia, limb (ictal) -Muscle weakness (ictal) -Gait ataxia (ictal) Ataxia Ataxia (ictal) Gait ataxia Tremor (any or unspecified) Nystagmus (interictal) Nausea (ictal) Depression -Tremor (ictal) Hyperhidrosis Muscle weakness Depression (interictal) Ataxia, limb Nystagmus Show more (+14) |
n.a.
|
|
Yes
|
n.a.
|
C
|
n.a.
|
10
|
n.a.
|
No
|
Ataxia (ictal)
Vertigo Dysarthria Dysarthria (ictal) Ataxia Vertigo (ictal) Physical stress trigger Show more (+4) |
n.a.
|
|
Yes
|
n.a.
|
C
|
n.a.
|
8
|
n.a.
|
n.a.
|
Cerebellar atrophy
Dysarthria Gait ataxia Ataxia (ictal) Dysarthria (ictal) -Gait ataxia (ictal) Seizures Seizures (interictal) Ataxia Show more (+6) |
n.a.
|
|
Yes
|
♂
|
C
|
n.a.
|
6
|
n.a.
|
n.a.
|
Vertigo (ictal)
-Gait ataxia (ictal) Nystagmus (interictal) Ataxia, limb (ictal) Ataxia Cognitive impairment (interictal) Cognitive impairment Gait ataxia Physical stress trigger Vertigo Nystagmus Ataxia (ictal) Ataxia, limb Show more (+10) |
n.a.
|
|
Yes
|
♂
|
C
|
n.a.
|
0
|
8
|
n.a.
|
Vomiting (ictal)
-Dystonia (ictal) Migraine (interictal) Ataxia (ictal) Ataxia -Gait ataxia (ictal) Dystonia (any or unspecified) Gait ataxia Migraine -Dystonia (interictal) Vomiting Show more (+8) |
n.a.
|
|
Yes
|
n.a.
|
C
|
n.a.
|
5
|
n.a.
|
n.a.
|
-Gait ataxia (ictal)
-Gait ataxia (interictal) Ataxia Gait ataxia Nystagmus Nystagmus (interictal) Ataxia (ictal) Show more (+4) |
n.a.
|
|
Yes
|
♀
|
C
|
n.a.
|
9
|
55
|
n.a.
|
Nystagmus (interictal)
Vertigo (ictal) -Gait ataxia (interictal) Ataxia Ataxia (ictal) Gait ataxia Cognitive impairment (interictal) Cognitive impairment -Gait ataxia (ictal) Vertigo Nystagmus Show more (+8) |
n.a.
|
|
Yes
|
n.a.
|
C
|
n.a.
|
24
|
n.a.
|
n.a.
|
n.a.
|
||
Yes
|
n.a.
|
C
|
n.a.
|
12
|
n.a.
|
n.a.
|
Dysarthria
Muscle weakness Nystagmus (interictal) Gait ataxia Dysarthria (ictal) Ataxia Vertigo Vertigo (ictal) Nystagmus -Muscle weakness (ictal) -Gait ataxia (interictal) Show more (+8) |
n.a.
|
|
Yes
|
♀
|
C
|
n.a.
|
32
|
38
|
n.a.
|
Vomiting
Nausea (ictal) Nystagmus Nystagmus (interictal) Tremor (any or unspecified) Emotional stress trigger Vertigo Vertigo (ictal) -Gait ataxia (interictal) Vomiting (ictal) Ataxia Nausea -Tremor (interictal) Gait ataxia Show more (+11) |
n.a.
|