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