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