Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Prevalence and carrier frequency of Canavan disease in a South Indian community with implications for research and public health.

Scientific reports - 16 May 2026

Aaron Rekha, Chapla Aaron, Jayaprabha M, Elangovan Janane, Chellappa Roopa Kunthavai, Krishnamurthy Asha, Raghavan Ramya, Peters Mrinalini, Thomas Maya, Danda Sumita

Abstract excerpt

Canavan disease (CD) is a progressive leukodystrophy characterized by the spongy degeneration of white matter in the brain. Only three reports from India have been elucidated the ASPA gene mutation in patients diagnosed with CD. At our center, two genetically confirmed cases of juvenile Canavan disease have been identified. Both patients possess a novel genetic variant in the ASPA gene, c.526G > A (p. Gly176Ser),...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amidohydrolases
Share to Cross-Sectional Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Founder Effect

Share to Heterozygote

Share to Microsatellite Repeats

Share to Prevalence

Share to Public Health

Source

Open in PubMed Open full text

Identifiers

PMID: 42143119
DOI: 10.1038/s41598-026-52947-0
PMCID: PMC13392101

Genes

ASPA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prevalence and carrier frequency of Canavan disease in a South Indian community with implications for research and public health.PMID 42143119Read ↗

Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: Genomic signatures of a founder eventSemantic proximity Read ↗

Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: genomic signatures of a founder event.Semantic proximity Read ↗

Molecular characterisation and prenatal diagnosis of Asparto-acylase deficiency (Canavan disease)--report of two novel and two known mutations from the Indian subcontinent.Semantic proximity Read ↗

Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay.Semantic proximity Read ↗

Novel mutation in an Egyptian patient with infantile Canavan disease.Semantic proximity Read ↗

Frequency of a DNA polymorphism at position Y231 in the aspartoacylase gene and its impact on DNA-based carrier testing for Canavan disease in the Ashkenazi Jewish Population.Semantic proximity Read ↗

Canavan Disease: Genomic Organization and Localization of Human ASPA to 17p13-ter and Conservation of the ASPA Gene during EvolutionSemantic proximity Read ↗

Canavan disease: diagnosis and molecular analysis.Semantic proximity Read ↗

The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.Semantic proximity Read ↗

A mutation of aspartoacylase gene in a Turkish patient with Canavan disease.Semantic proximity Read ↗

The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients.Semantic proximity Read ↗

[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with Canavan disease].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.