Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
n.a.
|
n.a.
|
GBR
|
n.a.
|
n.a.
|
No
|
Central motor conduction time abnormality
Nerve conduction studies other abnormalities Spasticity, lower limb Peripheral neuropathy on nerve conduction studies Show more (+1) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
GBR
|
n.a.
|
n.a.
|
No
|
Spasticity, lower limb
|
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
GBR
|
n.a.
|
n.a.
|
No
|
Spasticity, lower limb
Cognitive impairment |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
GBR
|
n.a.
|
n.a.
|
No
|
Central motor conduction time abnormality
Spasticity, lower limb |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
GBR
|
n.a.
|
n.a.
|
No
|
Central motor conduction time abnormality
Nerve conduction studies other abnormalities Peripheral neuropathy on nerve conduction studies Spasticity, lower limb Show more (+1) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
GBR
|
n.a.
|
n.a.
|
No
|
Cognitive impairment
Spasticity, lower limb Seizures |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
GBR
|
n.a.
|
n.a.
|
No
|
Spasticity, lower limb
Psychosis |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
GBR
|
n.a.
|
n.a.
|
No
|
Spasticity, lower limb
Dystonia (any or unspecified) Pes cavus |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
GBR
|
n.a.
|
n.a.
|
No
|
Spasticity, lower limb
Nerve conduction studies other abnormalities Central motor conduction time abnormality Peripheral neuropathy on nerve conduction studies Show more (+1) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
GBR
|
n.a.
|
n.a.
|
No
|
Peripheral neuropathy on nerve conduction studies
Spasticity, lower limb Nerve conduction studies other abnormalities |
n.a.
|