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