Version May 2024
| Congenital disorders |
| Arnold-Chiari malformation |
| Congenital cerebellar hypoplasia/aplasia |
| Dandy Walker cyst |
| Gillespie syndrome |
| Hydrocephalus |
| Joubert syndrome (congenital absence of the cerebellar vermis) |
| Pontocerebellar hypoplasia |
| Genetic disorders with dominant inheritance |
| Adult onset leukodystrophy |
| Dentatorubral pallidoluysian atrophy |
| Episodic ataxias |
| Myelocerebellar disorder (ataxia-pancytopenia syndrome) |
| Spinocerebellar ataxias |
| Genetic disorders with autosomal recessive inheritance |
| Abetalipoproteinemia (Bassen-Kornzweig disease) |
| Aceruloplasminemia |
Aminoacidurias:
|
| Ataxia with hypogonadism (Holmes ataxia) |
| Ataxia with isolated vitamin E deficiency |
| Ataxia with oculomotor apraxia I |
| Ataxia with oculomotor apraxia II |
| Ataxia-telangiectasia |
| Ataxia-telangiectasia-like disorder |
| Autosomal recessive cerebellar ataxia type 1 |
| Autosomal recessive cerebellar ataxia type 2 |
| Autosomal recessive cerebellar ataxia type 3 |
| Cerebrotendinous xanthomatosis |
| Cockayne syndrome |
| Friedreich ataxia |
Hyperammonemias:
|
Leukodystrophies:
|
Lysosomal diseases:
|
| Marinesco-Sjögren syndrome |
| Nijmegen breakage syndrome |
| Pantothenate kinase-associated neurodegeneration |
| Refsum disease |
| Spastic ataxia of Charlevoix-Saguenay |
| Unverricht-Lundborg disease |
| Wilson disease |
| Genetic disorders with X-linked inheritance |
| Adrenomyeloneuropathy |
| Fragile X tremor ataxia syndrome |
| Ornithine transcarbamylase deficiency |
| Pyruvate dehydrogenase deficiency |
| X-linked adrenoleukodystrophy |
| X-linked sideroblastic anemia with ataxia |
| Mitochondrial disorders |
| Nonsyndromic mitochondrial disorders |
Syndromic mitochondrial disorders:
|
| Toxic and metabolic disorders |
| Alcoholic cerebellar degeneration |
| Carbon monoxide |
| Drugs (eg, antiseizure medications, chemotherapy) |
| Extra pontine myelinolysis |
| Hepatocerebral degeneration |
| Hyperthermia |
| Hypomagnesemia |
| Hypoparathyroidism |
| Hypothyroidism |
| Insecticides |
| Portal-systemic encephalopathy |
Toxins:
|
| Infectious etiologies |
| Cerebellar abscess |
| Congenital rubella panencephalitis |
| Fungal meningoencephalitis |
| HIV encephalitis/AIDS |
| HSV encephalitis |
| Legionella |
| Lyme disease |
| Malaria |
| Mycoplasma |
| Neurocysticercosis (rarely) |
Prion diseases:
|
| Progressive multifocal leukoencephalopathy |
| Streptococcus pneumoniae |
| Subacute sclerosing panencephalitis (classically measles, rubella) |
| Syphilis (rare as only manifestation) |
| Toxoplasmosis (rare as only manifestation) |
| Tuberculosis |
Viral cerebellitis:
|
| Whipple disease |
| Vascular |
| Cerebellar hemorrhage |
| Cerebellar infarction |
| Superficial siderosis |
Vertebrobasilar insufficiency:
|
| Vitamin deficiencies |
| Vitamin B12 deficiency |
| Vitamin E deficiency |
| Wernicke encephalopathy, thiamine deficiency |
| Zinc deficiency |
| Neoplastic processes |
Benign tumors:
|
| Lymphoma |
| Paraneoplastic cerebellar degeneration |
| PTEN hamartoma tumor syndrome, including Cowden syndrome |
Metastatic cancer, most commonly in adults:
|
Primary malignant tumors:
|
| Autoimmune diseases |
| Acute disseminated encephalomyelitis |
| Bickerstaff encephalitis |
| Celiac disease (gluten enteropathy with ataxia) |
| GAD antibody-associated ataxia |
| Hashimoto thyroiditis/encephalopathy |
| Histiocytosis X |
| Miller Fisher variant of Guillain-Barré syndrome |
| Multiple sclerosis (note overlap with postinfectious cerebellitis as initial presenting symptom) |
| Neurosarcoidosis |
| Postinfectious cerebellitis (eg, following varicella zoster virus or Epstein-Barr virus infections) |
Vasculitis, including:
|
| Sporadic cerebellar neurodegenerative diseases |
| Multiple system atrophy |
| Neuroacanthocytosis |
| Pantothenate kinase-associated neurodegeneration (sporadic form) |
| Progressive supranuclear palsy |
| Cerebellar ataxia mimics |
| Large fiber sensory neuropathy |
| Migraine headache with ataxia |
| Normal pressure hydrocephalus |
| Obstructive hydrocephalus |
| Psychogenic ataxia |
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