Wada, 2002: Overview of all reported PxMD-CACNA1A patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
A
JPN
7
13
n.a.
Coma
-Gait ataxia (interictal)
Vomiting
Gait ataxia
Muscle weakness
Hemiplegia
Ataxia (interictal)
Cerebellar atrophy
Ataxia
Headache
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n.a.
Yes
A
JPN
4
8
n.a.
Muscular hypotonia (interictal)
Dysarthria (ictal)
Vomiting (ictal)
Ataxia (ictal)
Ataxia, limb
Hemiplegia
Vomiting
Cerebellar atrophy
-Hemiplegia (ictal)
-Muscle weakness (ictal)
Migraine
Dysarthria (interictal)
Migraine (ictal)
Coma
Nystagmus
Dystonia (any or unspecified)
Gait ataxia
-Gait ataxia (interictal)
Muscular hypotonia
-Limb ataxia (interictal)
Dysarthria
Nystagmus (interictal)
-Dystonia (ictal)
Ataxia
Muscle weakness
Ataxia (interictal)
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n.a.
No
A
JPN
n.a.
n.a.
n.a.
Ataxia (interictal)
Ataxia
Gait ataxia
Dysarthria
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n.a.
No
A
JPN
18
37
n.a.
Dysarthria
-Gait ataxia (interictal)
Cerebellar atrophy
Ataxia
Ataxia (interictal)
Dysarthria (interictal)
Headache
Gait ataxia
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n.a.
No
A
JPN
30
66
n.a.
Ataxia
Ataxia (interictal)
Dysarthria (interictal)
Coma
Dysarthria
Cerebellar atrophy
Headache
-Gait ataxia (interictal)
Hemiplegia
Gait ataxia
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n.a.