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