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Article

Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia.

Journal of neurology - 1 Nov 2014

Halevy Ayelet, Lerer Israela, Cohen Rony, Kornreich Liora, Shuper Avinoam, Gamliel Moria, Zimerman Bat-El, Korabi Isam, Meiner Vardiella, Straussberg Rachel, Lossos Alexander

Abstract excerpt

We describe two pairs of siblings from a consanguineous family manifesting autosomal recessive hereditary spastic paraplegia caused by a novel mutation in the EXOSC3 gene, previously reported in pontocerebellar hypoplasia type 1. Clinical findings included delayed motor milestones, early-onset spastic paraplegia, variable cognitive disability, and cerebellar signs. Cerebral imaging demonstrated enlarged cisterna...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25149867
DOI: 10.1007/s00415-014-7457-x

Genes

EXOSC3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia.PMID 25149867Read ↗

Two siblings with a novel variant of EXOSC3 extended phenotypic spectrum of pontocerebellar hypoplasia 1B to an exceptionally mild form.Semantic proximity Read ↗

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3Semantic proximity Read ↗

EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.Semantic proximity Read ↗

EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.Semantic proximity Read ↗

Novel EXOSC3 pathogenic variant results in a mild course of neurologic disease with cerebellum involvementSemantic proximity Read ↗

[Familial EXOSC3-related pontocerebellar hypoplasia].Semantic proximity Read ↗

A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C.Semantic proximity Read ↗

Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy.Semantic proximity Read ↗

Genetic and clinical insights into pontocerebellar hypoplasia: Identification of novel variants in an Iranian cohort.Semantic proximity Read ↗

Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.Semantic proximity Read ↗

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

Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegiaSemantic proximity Read ↗

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