Disorder | Overlapping with AxD | Distinguishing from AxD |
Leukodystrophies |
Adrenomyeloneuropathy8 | | Clinical features: Sensory disturbance, neuropathy MRI: Imaging of the brain may appear normal or may show minor abnormalities involving the pyramidal tracts within the internal capsules and brainstem
|
Metachromatic leukodystrophy8 | Clinical features: Spasticity, gait imbalance MRI: Periventricular white matter abnormalities, brain atrophy
| |
Vanishing white matter disease8 | Clinical features: Ataxia, spasticity, neurologic deterioration after minor trauma or infections MRI: T2 hyperintense signal changes involving supratentorial white matter, cerebellar degeneration
| |
Leukoencephalopathy with brainstem and spinal cord involvement8 | Clinical features: Ataxia, spasticity, cognitive decline MRI: Signal abnormalities involving the periventricular white matter and cerebellar white matter
| Clinical features: Epilepsy, peripheral neuropathy MRI: Signal changes involving the corticospinal tract, medial lemniscus and trigeminal nerves
|
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia8 | Clinical features: Cognitive decline, spasticity, ataxia MRI: Signal abnormalities involving the periventricular white matter and brainstem
| Clinical features: Tremors, bradykinesia, prominent gait apraxia, parkinsonism MRI: Thinning of the corpus callosum, convexity subarachnoid spaces, deep white matter diffusion restriction or microcalcifications, no contrast enhancement
|
Neurodegenerative disorders |
Multiple sclerosis22 23 | Clinical features: Muscle weakness, spasticity, dysarthria/bulbar dysfunction and gait imbalance MRI: Frontal white matter involvement, periventricular rim, brainstem or spinal cord abnormalities
| Clinical features: Vision loss MRI: Generalised brain atrophy, absence of symmetry, spinal cord lesions involving the thoracic cord, optic nerve lesions
|
Spinocerebellar degeneration35 | Clinical features: Muscle weakness, oculomotor abnormalities, ataxia, spasticity, hyper-reflexia MRI: Atrophy of the cerebellum
| |
Myelitis36 37 | | Clinical features: Paraesthesia, sensory loss, acute or chronic pain MRI: Spinal cord lesions extending over multiple segments and classically involving the thoracic cord
|
Adult-onset polyglucosan body disease8 31 | Clinical features: Spasticity, paraparesis, gait disturbance, bladder dysfunction, orthostatic hypotension MRI: Medullary and spinal cord atrophy, cerebellar atrophy, periventricular white matter abnormalities
| Clinical features: Peripheral neuropathy, paraesthesia MRI: Thinning of the corpus callosum, white matter lesions with occipital predominance, signal changes affecting the internal and external capsules and medial lemniscus
|
Neuromyelitis optica spectrum disorder24 | | Clinical features: Normal height, no scoliosis MRI: Absence of signal changes in the periventricular white matter, deep grey matter or cerebellar dentate
|
Myasthenia gravis38 | | |
Amyotrophic lateral sclerosis39 | Clinical features: Hyper-reflexia, incoordination, spasticity, muscle atrophy, bulbar signs, autonomic dysfunction MRI: n/a
| Clinical features: Pseudobulbar palsy, paraesthesia, pain MRI: Decreased signal intensity within the motor cortex on T2-weighted images, corticospinal tract lesions, decreased signal intensity within the precentral gyrus on susceptibility-weighted imaging, signal changes involving the corticospinal tract and internal capsule
|
Multiple system atrophy—cerebellar subtype40 | Clinical features: Ataxia, spasticity, hyper-reflexia, autonomic dysfunction, oculomotor abnormalities MRI: Cerebellar atrophy, hot-cross bun sign
| Clinical features: Anhidrosis, visuospatial dysfunction MRI: Hyperintense T2 cross-shaped signal within the pons due to transverse pontocerebellar fibre degeneration
|