Common symptoms and localisation of AxD in adults
Anatomy and MRI features | ||
Symptom/sign | Localisation | Imaging findings |
Muscle weakness | Brainstem, upper cervical cord (motor neurones) | Medullary and cervical atrophy, symmetric T2 hyperintensities2 34 |
Palatal myoclonus | Brainstem (dentato-rubro-olivary pathway) or cerebellum | |
Sleep apnoea | Brainstem (dorsal medulla) or cerebellum | |
Intractable vomiting | Brainstem (dorsal medulla) | |
Syncope or dysautonomia | Brainstem (reticular formation) | |
Upper motor neurone bladder | Brainstem (pons, periaqueductal grey matter), spinal cord | |
Nystagmus | Brainstem or cerebellum | |
Dysphagia | Brainstem (medulla) | |
Abnormal ocular saccades and pursuits | Brainstem (reticular formation, medial longitudinal fasciculus, vestibular nuclei) | |
Balance difficulties (including abnormal gait, ataxia) | Cerebellum | Cerebellar hemispheric white matter changes, dentate abnormalities, atrophy2 8 |
Dysarthria | Cerebellum | |
Psychiatric or mood changes | Frontal white matter | Symmetric frontally predominant T2 hyperintensities2 5 |
AxD, Alexander disease.