| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
H
|
BRA
|
2
|
36
|
n.a.
|
Hyperreflexia in upper limbs
Spasticity, lower limb Wheelchair Spasticity, upper limb Mri brain other abnormalities Impaired temperature sensation Muscle weakness, upper limb Inability to walk Pes cavus Dysarthria Abnormality of the cerebral white matter Dysphagia Impaired proprioception Impaired pain sensation Impaired vibratory sensation Central motor conduction time abnormality Lower limb muscle weakness Show more (+14) |
n.a.
|