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