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