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

Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families.

European journal of neurology - 1 Oct 2016

Tessa A, Battini R, Rubegni A, Storti E, Marini C, Galatolo D, Pasquariello R, Santorelli F M

Abstract excerpt

BACKGROUND AND PURPOSE: The term hereditary spastic paraplegia (HSP) covers a spectrum of genetically heterogeneous disorders in which lower limb spasticity is the common clinical feature. Many patients with childhood-onset HSP are mistakenly diagnosed with cerebral palsy (CP). METHODS: A group of as yet molecularly undiagnosed HSP patients were analyzed using SpastoPlex, a customized target re-sequencing panel...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Cerebral Palsy
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diagnostic Errors

Share to Hereditary Neurological Disorders

Share to Mutation

Share to Pedigree

Share to Spastic Paraplegia, Hereditary

Source

Identifiers

PMID: 27444738
DOI: 10.1111/ene.13085

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

Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families.PMID 27444738Read ↗

Clinical and genetic characterization of AP4B1-associated SPG47.Semantic proximity Read ↗

Spastic paraplegia 51: phenotypic spectrum related to novel homozygous AP4E1 mutation.Semantic proximity Read ↗

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegiaSemantic proximity Read ↗

A novel loss of function mutation in adaptor protein complex 4, subunit mu-1 causing autosomal recessive spastic paraplegia 50.Semantic proximity Read ↗

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

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant.Semantic proximity Read ↗

Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia.Semantic proximity Read ↗

A new family with spastic paraplegia type 51 and novel mutations in AP4E1.Semantic proximity Read ↗

Novel variants in AP4B1 cause spastic tetraplegia, moderate psychomotor development delay and febrile seizures in a Chinese patient: a case report.Semantic proximity Read ↗

The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.Semantic proximity Read ↗

Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in SPG11.Semantic proximity Read ↗

Exome sequencing reveals novel SPG11 mutation in hereditary spastic paraplegia with complicated phenotypes.Semantic proximity Read ↗

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