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Biomarker and diagnostic research for autosomal recessive cerebral atrophy has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for autosomal recessive cerebral atrophy.
132 publications have been identified in PubMed for autosomal recessive cerebral atrophy. Kisho has analyzed 91 by research type. Research spans Case Report / Case Series (49%), Basic Science / Preclinical (21%), and Review / Meta-Analysis (18%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 45 | 49% |
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 4:05 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Laboratory research |
19 |
21% |
Research summaries | 16 | 18% |
Clinical study results | 5 | 5% |
New treatment approaches | 3 | 3% |
Testing and diagnosis research | 2 | 2% |
Disease patterns and progression | 1 | 1% |
Urquiza N (2026). [PMID: 41475179](https://pubmed.ncbi.nlm.nih.gov/41475179/). *Mol Genet Metab*. [Case Report / Case Series]
D'Amico A (2026). [PMID: 41484683](https://pubmed.ncbi.nlm.nih.gov/41484683/). *Neurol Sci*. [Case Report / Case Series]
Boespflug-Tanguy O (2026). [PMID: 42198847](https://pubmed.ncbi.nlm.nih.gov/42198847/). *Mol Ther*. [Gene Therapy / Novel Therapeutics]
Yan A (2026). [PMID: 40930722](https://pubmed.ncbi.nlm.nih.gov/40930722/). *Pract Neurol*. [Case Report / Case Series]
Herrmann A (2026). [PMID: 41875837](https://pubmed.ncbi.nlm.nih.gov/41875837/). *Pediatr Neurol*. [Diagnostic / Biomarker]
Kumar A (2026). [PMID: 41720819](https://pubmed.ncbi.nlm.nih.gov/41720819/). *NPJ Genom Med*. [Basic Science / Preclinical]
Mahale RR (2026). [PMID: 42080998](https://pubmed.ncbi.nlm.nih.gov/42080998/). *Cerebellum*. [Review / Meta-Analysis]
İcil S (2026). [PMID: 42232678](https://pubmed.ncbi.nlm.nih.gov/42232678/). *Mol Syndromol*. [Case Report / Case Series]
Kılıç M (2026). [PMID: 42188980](https://pubmed.ncbi.nlm.nih.gov/42188980/). *J Pediatr Endocrinol Metab*. [Case Report / Case Series]
Morsy H (2026). [PMID: 41570816](https://pubmed.ncbi.nlm.nih.gov/41570816/). *Am J Hum Genet*. [Basic Science / Preclinical]