| 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
Abnormality of the cerebral white matter Inability to walk Spasticity, lower limb Central motor conduction time abnormality Impaired proprioception Pes cavus Dysarthria Dysphagia Mri brain other abnormalities Wheelchair Impaired temperature sensation Impaired vibratory sensation Muscle weakness, upper limb Lower limb muscle weakness Impaired pain sensation Spasticity, upper limb Show more (+14) |
n.a.
|