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