|
Alcoholic cerebellar degeneration
|
Severe ataxia of gait and lower limbs with relatively mild involvement of the upper limbs; Neuropathy |
Unremarkable |
Cerebellar atrophy with preferential involvement of the superior cerebellar vermis |
|
Ataxia related to toxic causes
|
Exposure or abuse of substances |
Elevated plasma levels of substances like lithium, and phenytoin |
Unremarkable; Cerebellar atrophy in late stages |
|
Paraneoplastic cerebellar degeneration
|
Subacute ataxia in weeks with rapid progression |
Elevated levels of Anti-HU, Anti-Yo, Anti-Tr, Anti mGluR1 or anti-VGCC; CSF with mild pleocytosis or high levels of proteins |
Signal changes, particularly in superior vermis; Cerebellar atrophy in late stages. |
|
Anti-GAD ataxia
|
Slowly progressive cerebellar ataxia evolving in months or years |
High serum levels of GAD antibodies; Oligoclonal bands on CSF |
Cerebellar atrophy |
|
Gluten related ataxia
|
Slowly progressive cerebellar ataxia evolving in months or years |
Antigliadin antibodies and tissue transglutaminase levels |
Unremarkable. Cerebellar atrophy in late stages |
|
SREAT
|
Subacute cognitive changes, cerebral ischemia, myoclonus, seizures, psychiatric symptoms and ataxia |
High serum levels of thyperoxidase or thyroglobulin antibodies; CSF with mild pleocytosis and high levels of proteins |
Mesial temporal lobe lesions, multiple subcortical ischemic areas or may be normal. |
|
Vitamin B1 (Thiamine) deficiency
|
Ataxia, confusion and ophthalmoparesis (Wernicke encefalopathy); Alcoholic cerebellar degeneration. |
Low plasma levels of thiamine. Normal vitamin B1 does not exclude the disease. |
Symmetric signal alterations in the thalami, mamillary bodies, tectal plate and periaqueductal area |
|
Vitamin B12 deficiency
|
Sensory ataxia, impaired deep sensitivity, peripheral neuropathy and pyramidal signs |
Anemia with elevated MCV; Low plasma levels of vitamin B12 or high levels of homocystein and methylmalonic acid |
High intensity signals in the posterior column of cervical or thoracic spinal cord |
|
Vitamin E deficiency
|
Progressive ataxia, loss of proprioception and areflexia and positive Babinski sign. |
Reduced plasma levels of vitamin E |
Cerebellar atrophy is uncommon |
|
MSA-C
|
Cerebellar ataxia, ocular motility abnormalities and dysarthria and autonomic dysfunction |
Unremarkable |
Hyperintense signal in cerebellar peduncles, olivopontocerebellar atrophy and "hot cross bun" sign |
|
ILOCA
|
Slow progressive pure cerebellar ataxia syndrome in adulthood or elderly |
Unremarkable |
Atrophy limited to the cerebellum |
|
Whipple's disease
|
Fever, weight loss, diarrhea, arthritis, neuropsychiatric symptoms, cognitive impairment and ataxia |
Blood or CSF PCR for Tropheryma whipplei; |
Unilateral or bilateral abnormal T2 signal intensity most evident on FLAIR sequences within the mesial temporal lobe, midbrain, hypothalamus, and thalamus |
|
Neurosyphilis ataxia
|
Ataxia is purely sensory associated with pain, bladder dysfunction, and abnormal pupillary reflexes |
Positive serologic and CSF tests for Syphilis |
High intensity signals in the posterior column of cervical or thoracic spinal cord |
|
HIV
|
Subacute ataxia which progress in months |
Positive serologic test for HIV |
Cerebellar atrophy |
|
Creutzfeldt-Jakob disease
|
Rapidly progressive dementia with cortical blindness, myoclonus and cerebellar ataxia |
CSF 14-3-3 protein and neuron-specific enolase |
Bilateral hyperintensity of the thalamic pulvinar nucleus in T2, FLAIR and DW sequences (pulvinar sign); high signal abnormalities in FLAIR and DW sequences in caudate nuclear and putamen or cortical regions |
|
Superficial siderosis
|
Sensorineural hearing loss, cerebellar ataxia and pyramidal signs |
Unremarkable |
Hypointense signal around the brainstem, cerebellum and spinal cord |
|
PAPT
|
Late-onset progressive cerebellar ataxia, oculomotor disturbances and symptomatic palatal tremor |
Unremarkable |
Hypertrophy and hyperintense signal in the olivary complexes and cerebellar atrophy |
|
Histiocytosis of the nervous system
|
Ataxia, pyramidal signs and cognitive dysfunction |
Unremarkable |
Cerebellar white matter changes, as well as brainstem and basal ganglia abnormalities |
|
LOFA
|
Ataxia, pyramidal signs, spasticity and brisk deep tendon reflexes |
Positive genetic test for Friedreich ataxia |
Mild cerebellar atrophy in late stages |
|
FXTAS
|
Adult-onset ataxia associated with tremor and mild cognitive impairment |
Positive genetic test for premutation of Frangile X gene (CGG repeats between 55 and 200) |
Hyperintense signal in the dentate nucleus extending to the middle cerebellar peduncle bilaterally, as well as global changes in cerebral white matter |
|
Adult-onset Alexander disease
|
Progressive pyramidal signs, cerebellar ataxia, palatal tremor and bulbar palsy. |
GFAP gene mutation |
Spinal cord and medulla oblongata atrophy |
