Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
8
|
n.a.
|
n.a.
|
-Gait ataxia (interictal)
Headache Ataxia (ictal) Gait ataxia Hypertonia Nystagmus (interictal) Vertigo Vomiting -Visual blurring (ictal) -Gait ataxia (ictal) Vomiting (ictal) Nausea Nausea (ictal) Ataxia Vertigo (ictal) Nystagmus Visual blurring Hypertonia Show more (+15) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
2
|
n.a.
|
n.a.
|
-Limb ataxia (interictal)
Emotional stress trigger -Gait ataxia (interictal) Vertigo (ictal) Nystagmus (interictal) Saccadic smooth pursuit Nausea (ictal) Gait ataxia Dysarthria Vertigo -Gait ataxia (ictal) Vomiting (ictal) Ataxia (ictal) Nausea Dysarthria (ictal) Vomiting Physical stress trigger Nystagmus Ataxia Ataxia, limb Cognitive impairment Show more (+18) |
Nystagmus
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
7
|
n.a.
|
n.a.
|
Tinnitus
Vomiting Nystagmus Ataxia Physical stress trigger Nystagmus (interictal) Nausea Depression Tinnitus (ictal) Dysarthria Nausea (ictal) Vomiting (ictal) Ataxia (ictal) Dysarthria (ictal) Emotional stress trigger -Gait ataxia (ictal) Gait ataxia Show more (+14) |
n.a.
|