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

Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability.

Journal of the neurological sciences - 15 Sept 2017

Kawarai Toshitaka, Montecchiani Celeste, Miyamoto Ryosuke, Gaudiello Fabrizio, Caltagirone Carlo, Izumi Yuishin, Kaji Ryuji, Orlacchio Antonio

Abstract excerpt

Mutations in SPG4/SPAST are the most frequent molecular aetiology in the autosomal dominant form of hereditary spastic paraplegia (HSP). Loss-of-function and haploinsufficiency in SPAST have been demonstrated and the pure form of spastic paraplegia is a main clinical manifestation. This study is to explore the novel SPAST splice site donor variant, c.1004+3A>C, in seven patients from two families, one from Italy...

Read the complete abstract on PubMed

Topics

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

Share to Cells, Cultured
Share to Cohort Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family

Share to Paraplegia

Share to RNA Splice Sites

Share to Spastic Paraplegia, Hereditary

Share to Spastin

Share to T-Lymphocytes

Source

Identifiers

PMID: 28870597
DOI: 10.1016/j.jns.2017.07.011

Genes

SPAST

Variants

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

Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability.PMID 28870597Read ↗

Late-onset spastic paraplegia: Aberrant SPG11 transcripts generated by a novel splice site donor mutation.Semantic proximity Read ↗

Evaluating the effect of spastin splice mutations by quantitative allele-specific expression assay.Semantic proximity Read ↗

Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia.Semantic proximity Read ↗

A SPAST gene-related hereditary spastic paraplegia type 4 family: Identification by a novel mutationSemantic proximity Read ↗

A novel SPAST gene mutation identified in a Chinese family with hereditary spastic paraplegia.Semantic proximity Read ↗

Novel SPAST deletion and reduced DPY30 expression in a Spastic Paraplegia type 4 kindred.Semantic proximity Read ↗

A novel missense mutation in SPAST causes hereditary spastic paraplegia in male members of a family: A case report.Semantic proximity Read ↗

Large deletion involving the 5'-UTR in the spastin gene caused mild phenotype of autosomal dominant hereditary spastic paraplegia.Semantic proximity Read ↗

A novel splicing mutation (c.870+3A>G) in SPG4 in a Korean family with hereditary spastic paraplegia.Semantic proximity Read ↗

Identification of c.1495C > T mutation in SPAST gene in a family of Han Chinese with hereditary spastic paraplegia.Semantic proximity Read ↗

Genetic, structural and clinical analysis of spastic paraplegia 4.Semantic proximity Read ↗

A novel SPAST gene mutation identified in a Chinese family with hereditary spastic paraplegiaSemantic proximity Read ↗

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