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