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

Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration.

International journal of molecular sciences - 2 Mar 2021

Sancho Paula, Andrés-Bordería Amparo, Gorría-Redondo Nerea, Llano Katia, Martínez-Rubio Dolores, Yoldi-Petri María Eugenia, Blumkin Luba, Rodríguez de la Fuente Pablo, Gil-Ortiz Fernando, Fernández-Murga Leonor, Sánchez-Monteagudo Ana, Lupo Vincenzo, Pérez-Dueñas Belén, Espinós Carmen, Aguilera-Albesa Sergio

Abstract excerpt

(1) Background: A non-progressive congenital ataxia (NPCA) phenotype caused by β-III spectrin (SPTBN2) mutations has emerged, mimicking spinocerebellar ataxia, autosomal recessive type 14 (SCAR14). The pattern of inheritance, however, resembles that of autosomal dominant classical spinocerebellar ataxia type 5 (SCA5). (2) Methods: In-depth phenotyping of two boys studied by a customized gene panel. Candidate...

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 Cerebellar Ataxia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Neurodegenerative Diseases

Share to Neuroimaging

Share to Protein Conformation

Share to Sequence Homology

Share to Spectrin

Share to Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 33801522
DOI: 10.3390/ijms22052505
PMCID: PMC7958857

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration.PMID 33801522Read ↗

A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature.Semantic proximity Read ↗

Clinical characterization of SPTBN1, SPTBN2, and SPTBN5 variants: A case series and systematic review.Semantic proximity Read ↗

Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development.Semantic proximity Read ↗

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.Semantic proximity Read ↗

Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum.Semantic proximity Read ↗

Pathogenic <i>SPTBN1</i> variants cause a novel autosomal dominant neurodevelopmental syndromeSemantic proximity Read ↗

Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain.Semantic proximity Read ↗

Heterozygous variants in SPTBN1 cause intellectual disability and autism.Semantic proximity Read ↗

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.Semantic proximity Read ↗

Cerebellar ataxias: β-III spectrin's interactions suggest common pathogenic pathways.Semantic proximity Read ↗

Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.Semantic proximity Read ↗

Spinocerebellar ataxia type 5.Semantic proximity Read ↗

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