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

Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia.

Annals of clinical and translational neurology - 1 Oct 2020

Lai Lu-Lu, Chen Yi-Jun, Li Yun-Lu, Lin Xiao-Hong, Wang Meng-Wen, Dong En-Lin, Wang Ning, Chen Wan-Jin, Lin Xiang

Abstract excerpt

OBJECTIVE: Recessive mutations in the CAPN1 gene have recently been identified in spastic paraplegia 76 (SPG76), a complex hereditary spastic paraplegia (HSP) that is combined with cerebellar ataxia, resulting in an ataxia-spasticity disease spectrum. This study aims to assess the influence of CAPN1 variants on the occurrence of SPG76 and identify factors potentially contributing to phenotypic heterogeneity....

Read the complete abstract on PubMed

Topics

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

Share to Ataxia
Share to Calpain

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cerebellar Ataxia

Share to Muscle Spasticity

Share to Optic Atrophy

Share to Paraplegia

Share to Spastic Paraplegia, Hereditary

Share to Spinocerebellar Ataxias

Source

Open in PubMed Open full text

Identifiers

PMID: 32860341
DOI: 10.1002/acn3.51169
PMCID: PMC7545613

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia.PMID 32860341Read ↗

Spastic paraplegia type 76 due to novel CAPN1 mutations: three case reports with literature review.Semantic proximity Read ↗

Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.Semantic proximity Read ↗

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.Semantic proximity Read ↗

CAPN1 mutations broadening the hereditary spastic paraplegia/spinocerebellar ataxia phenotype.Semantic proximity Read ↗

Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early-onset psychosis.Semantic proximity Read ↗

Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations.Semantic proximity Read ↗

Expanding the genetic and clinical landscapes of hereditary spastic paraplegia (HSP): a cohort study of 103 families.Semantic proximity Read ↗

Expanding the clinical phenotype of CAPN1-associated mutations: A new case with congenital-onset pure spastic paraplegia.Semantic proximity Read ↗

Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting.Semantic proximity Read ↗

Mutation analysis of CAPN1 in Chinese populations with spastic paraplegia and related neurodegenerative diseases.Semantic proximity Read ↗

AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range.Semantic proximity Read ↗

CAPN1 mutations are associated with a syndrome of combined spasticity and ataxia.Semantic proximity Read ↗

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