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