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

Early-onset phenotype in a patient with an intermediate allele and a large SCA1 expansion: a case report.

BMC neurology - 17 Sept 2024

Baille Guillaume, Geoffre Nicolas, Wissocq Anna, Planté-Bordeneuve Pauline, Mutez Eugénie, Huin Vincent

Abstract excerpt

BACKGROUND: Spinocerebellar ataxia type 1, is a rare neurodegenerative disorder with autosomal dominant inheritance belonging to the polyglutamine diseases. The diagnosis of this disease requires genetic testing that may also include the search for CAT interruption of the CAG repeat tract. CASE PRESENTATION: One 23-years-old patient suffers from a severe ataxia, with early-onset and rapid progression of the...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Alleles
Share to Ataxin-1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ataxins

Share to Nerve Tissue Proteins

Share to Spinocerebellar Ataxias

Share to Trinucleotide Repeat Expansion

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 39289638
DOI: 10.1186/s12883-024-03846-2
PMCID: PMC11406724

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Early-onset phenotype in a patient with an intermediate allele and a large SCA1 expansion: a case report.PMID 39289638Read ↗

Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2).Semantic proximity Read ↗

Twenty-five years since the identification of the first SCA gene: history, clinical features and perspectives for SCA1Semantic proximity Read ↗

Expanded ATXN10 Alleles in Neurodegenerative Disorders: A Case Series and Review of the LiteratureSemantic proximity Read ↗

Expansion, mosaicism and interruption: mechanisms of the CAG repeat mutation in spinocerebellar ataxia type 1Semantic proximity Read ↗

Genetic and clinical profiles in a large cohort of Chinese individuals with spinocerebellar ataxia type 1Semantic proximity Read ↗

Protocol for the Characterization of the Cytosine-Adenine-Guanine Tract and Flanking Polymorphisms in Machado-Joseph Disease: Impact on Diagnosis and Development of Gene-Based Therapies.Semantic proximity Read ↗

Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus.Semantic proximity Read ↗

Spinocerebellar ataxia type 1 (SCA1): phenotype-genotype correlation studies in intermediate alleles.Semantic proximity Read ↗

Detection Methods and Status of CAT Interruption of ATXN1 in Korean Patients With Spinocerebellar Ataxia Type 1.Semantic proximity Read ↗

Interruptions of the FXN GAA Repeat Tract Delay the Age at Onset of Friedreich's Ataxia in a Location Dependent Manner.Semantic proximity Read ↗

The role of interruptions in polyQ in the pathology of SCA1.Semantic proximity Read ↗

Analysis of a fully penetrant spinocerebellar ataxia type 8 Brazilian family.Semantic proximity Read ↗

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