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