Table 1

Common symptoms and localisation of AxD in adults

Anatomy and MRI features
Symptom/signLocalisationImaging findings
Muscle weaknessBrainstem, upper cervical cord (motor neurones)Medullary and cervical atrophy, symmetric T2 hyperintensities2 34
Palatal myoclonusBrainstem (dentato-rubro-olivary pathway) or cerebellum
Sleep apnoeaBrainstem (dorsal medulla) or cerebellum
Intractable vomitingBrainstem (dorsal medulla)
Syncope or dysautonomiaBrainstem (reticular formation)
Upper motor neurone bladderBrainstem (pons, periaqueductal grey matter), spinal cord
NystagmusBrainstem or cerebellum
DysphagiaBrainstem (medulla)
Abnormal ocular saccades and pursuitsBrainstem (reticular formation, medial longitudinal fasciculus, vestibular nuclei)
Balance difficulties (including abnormal gait, ataxia)CerebellumCerebellar hemispheric white matter changes, dentate abnormalities, atrophy2 8
DysarthriaCerebellum
Psychiatric or mood changesFrontal white matterSymmetric frontally predominant T2 hyperintensities2 5
  • AxD, Alexander disease.