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.
Headache
Coma
Ataxia (interictal)
Muscle weakness
Ataxia
Hemiplegia
Vomiting
Cerebellar atrophy
-Gait ataxia (interictal)
Gait ataxia
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n.a.
Yes
♀
A
JPN
4
8
n.a.
Nystagmus (interictal)
Ataxia, limb
Ataxia
Vomiting (ictal)
Dysarthria (ictal)
Dysarthria (interictal)
-Hemiplegia (ictal)
Migraine
Dysarthria
Muscular hypotonia
-Dystonia (ictal)
Gait ataxia
Ataxia (interictal)
-Limb ataxia (interictal)
-Gait ataxia (interictal)
Cerebellar atrophy
Coma
Vomiting
Nystagmus
-Muscle weakness (ictal)
Hemiplegia
Migraine (ictal)
Dystonia (any or unspecified)
Muscular hypotonia (interictal)
Muscle weakness
Ataxia (ictal)
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n.a.
No
♂
A
JPN
n.a.
n.a.
n.a.
Gait ataxia
Ataxia
Ataxia (interictal)
Dysarthria
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n.a.
No
♀
A
JPN
18
37
n.a.
Dysarthria
Ataxia
Gait ataxia
Dysarthria (interictal)
Ataxia (interictal)
-Gait ataxia (interictal)
Cerebellar atrophy
Headache
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n.a.
No
♂
A
JPN
30
66
n.a.
-Gait ataxia (interictal)
Ataxia
Dysarthria
Hemiplegia
Cerebellar atrophy
Gait ataxia
Dysarthria (interictal)
Headache
Coma
Ataxia (interictal)
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n.a.