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