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