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