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