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.
|
Muscle weakness
-Muscle weakness (ictal) Ataxia (ictal) -Gait ataxia (ictal) Depression (interictal) Nystagmus Ataxia, limb Nystagmus (interictal) Ataxia Gait ataxia Nausea (ictal) -Tremor (ictal) Ataxia, limb (ictal) Hyperhidrosis Tremor (any or unspecified) Nausea Depression Show more (+14) |
n.a.
|
|
Yes
|
n.a.
|
C
|
n.a.
|
10
|
n.a.
|
No
|
Dysarthria (ictal)
Ataxia Vertigo Vertigo (ictal) Physical stress trigger Ataxia (ictal) Dysarthria Show more (+4) |
n.a.
|
|
Yes
|
n.a.
|
C
|
n.a.
|
8
|
n.a.
|
n.a.
|
Dysarthria (ictal)
Gait ataxia -Gait ataxia (ictal) Seizures Ataxia (ictal) Ataxia Cerebellar atrophy Seizures (interictal) Dysarthria Show more (+6) |
n.a.
|
|
Yes
|
♂
|
C
|
n.a.
|
6
|
n.a.
|
n.a.
|
Nystagmus
-Gait ataxia (ictal) Nystagmus (interictal) Vertigo Physical stress trigger Vertigo (ictal) Gait ataxia Ataxia Cognitive impairment (interictal) Ataxia, limb Cognitive impairment Ataxia, limb (ictal) Ataxia (ictal) Show more (+10) |
n.a.
|
|
Yes
|
♂
|
C
|
n.a.
|
0
|
8
|
n.a.
|
Ataxia
-Dystonia (interictal) Migraine -Gait ataxia (ictal) Ataxia (ictal) Dystonia (any or unspecified) Vomiting (ictal) Migraine (interictal) Vomiting -Dystonia (ictal) Gait ataxia Show more (+8) |
n.a.
|
|
Yes
|
n.a.
|
C
|
n.a.
|
5
|
n.a.
|
n.a.
|
Ataxia (ictal)
Gait ataxia Ataxia Nystagmus -Gait ataxia (interictal) -Gait ataxia (ictal) Nystagmus (interictal) Show more (+4) |
n.a.
|
|
Yes
|
♀
|
C
|
n.a.
|
9
|
55
|
n.a.
|
Ataxia (ictal)
-Gait ataxia (interictal) Cognitive impairment (interictal) Nystagmus (interictal) Vertigo Cognitive impairment Nystagmus Ataxia Gait ataxia -Gait ataxia (ictal) Vertigo (ictal) 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.
|
Vertigo
Vertigo (ictal) Ataxia -Muscle weakness (ictal) Nystagmus (interictal) Muscle weakness Nystagmus -Gait ataxia (interictal) Gait ataxia Dysarthria (ictal) Dysarthria Show more (+8) |
n.a.
|
|
Yes
|
♀
|
C
|
n.a.
|
32
|
38
|
n.a.
|
Nausea
-Gait ataxia (interictal) Tremor (any or unspecified) Vomiting (ictal) Emotional stress trigger Vertigo (ictal) Ataxia Nystagmus Vomiting Vertigo Gait ataxia Nausea (ictal) -Tremor (interictal) Nystagmus (interictal) Show more (+11) |
n.a.
|