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