Rare diseases · Sign or symptom
Cerebellar atrophy
Degeneration of cerebellum
HP:0001272
What it means
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Cerebellar atrophy can be diagnosed if the cerebellum is small with shrunken folia and large cerebellar fissures or if it has been shown to undergo progressive volume loss.
Rare diseases that can present with this144
Very common80–99%
11- Ataxia-pancytopenia syndrome
- Autosomal recessive ataxia, Beauce type
- Autosomal recessive ataxia due to ubiquinone deficiency
- Autosomal recessive cerebellar ataxia due to STUB1 deficiency
- Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
- Autosomal recessive spastic paraplegia type 78
- Cockayne syndrome
- Northern epilepsy
- PLA2G6-related neurodegeneration, infantile-onset
- Spinocerebellar ataxia type 31
- Spinocerebellar ataxia type 5
Common30–79%
61- 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
- Adult-onset autosomal recessive cerebellar ataxia
- Alacrimia-choreoathetosis-liver dysfunction syndrome
- Alexander disease type I
- Ataxia-telangiectasia-like disorder
- Ataxia with vitamin E deficiency
- Autosomal dominant optic atrophy and cataract
- Autosomal recessive cerebelloparenchymal disorder type 3
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay
- Autosomal recessive spastic paraplegia type 35
- Autosomal recessive spastic paraplegia type 46
- Beta-propeller protein-associated neurodegeneration
- Bilateral polymicrogyria
- CACH syndrome
- Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
- Christianson syndrome
- Congenital cerebellar ataxia due to RNU12 mutation
- Congenital muscular dystrophy without intellectual disability
- Dystonia-aphonia syndrome
- Dystonia-parkinsonism-hypermanganesemia syndrome
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
- Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
- Fatty acid hydroxylase-associated neurodegeneration
- Folinic acid-responsive seizures
- Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
- Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
- Machado-Joseph disease type 1
- Machado-Joseph disease type 2
- Machado-Joseph disease type 3
- MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
- Myoclonic epilepsy of infancy
- Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
- PEHO syndrome
- Progressive encephalopathy with leukodystrophy due to DECR deficiency
- PRUNE1-related neurological syndrome
- Sandhoff disease, juvenile form
- Severe intellectual disability and progressive spastic paraplegia
- SLC35A2-CDG
- SLC39A8-CDG
- Spastic paraplegia type 7
- Spectrin-associated autosomal recessive cerebellar ataxia
- Spinocerebellar ataxia type 1
- Spinocerebellar ataxia type 10
- Spinocerebellar ataxia type 12
- Spinocerebellar ataxia type 13
- Spinocerebellar ataxia type 15/16
- Spinocerebellar ataxia type 17
- Spinocerebellar ataxia type 19/22
- Spinocerebellar ataxia type 20
- Spinocerebellar ataxia type 26
- Spinocerebellar ataxia type 29
- Spinocerebellar ataxia type 32
- Spinocerebellar ataxia type 35
- Spinocerebellar ataxia type 38
- Spinocerebellar ataxia type 42
- Spinocerebellar ataxia type 7
- Spinocerebellar ataxia type 8
- Superficial siderosis
- WARS2-related combined oxidative phosphorylation defect
- X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions, and Orphanet separately records 1 disease where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Atrophic cerebellum · Infratentorial atrophy
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.