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