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