Romaniello, 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
|
♀
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
Ataxia
Ataxia, limb -Limb ataxia (interictal) Tremor (any or unspecified) -Tremor (ictal) Dysarthria -Muscle weakness (ictal) Dysarthria (ictal) Muscle weakness Show more (+6) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
15
|
n.a.
|
n.a.
|
Nausea
Physical stress trigger Vertigo (ictal) -Muscle weakness (ictal) Migraine -Tremor (ictal) Vertigo Emotional stress trigger Ataxia, limb (ictal) Dysarthria Cerebellar atrophy Nausea (ictal) Dysarthria (ictal) Tremor (any or unspecified) Ataxia (ictal) Headache Ataxia, limb Ataxia Muscle weakness Show more (+16) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
6
|
12
|
n.a.
|
Dysarthria (interictal)
Muscular hypotonia Ataxia Ataxia (interictal) Seizures Dysarthria Muscular hypotonia (interictal) -Tremor (interictal) Ataxia, limb Extensor plantar response Cerebellar atrophy Tremor (any or unspecified) -Limb ataxia (interictal) Headache Show more (+11) |
Dysarthria
Tremor (any or unspecified) |