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

Pyrroline-5-carboxylate reductase 2 (PYCR2) deficiency causes hereditary spastic paraplaegia in late childhood.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2023

Sager Gunes, Türkyilmaz Ayberk, Günbey Hediye Pınar, Taş İbrahim, Ozhelvaci Fatih, Akin Yasemin

Abstract excerpt

OBJECTIVES: PYCR2 gene variants are extremely rare condition which is associated with hypomyelinating leukodystrophy type 10 with microcephaly (HLD10). The aim of the present study is to report the clinical findings of patients having novel PYCR2 gene variant that manifest Hereditary Spastic Paraplegia (HSP) is the only symptom without hypomyelinating leukodystrophy. This is the first study that report the PYCR2...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Amino Acid Metabolism, Inborn Errors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle Spasticity

Share to Oxidoreductases

Share to Pedigree

Share to Spastic Paraplegia, Hereditary

Share to Young Adult

Source

Identifiers

PMID: 37141741
DOI: 10.1016/j.ejpn.2023.04.002

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pyrroline-5-carboxylate reductase 2 (PYCR2) deficiency causes hereditary spastic paraplaegia in late childhood.PMID 37141741Read ↗

Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy.Semantic proximity Read ↗

PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.Semantic proximity Read ↗

PLP1 gene mutations cause spastic paraplegia type 2 in three families.Semantic proximity Read ↗

Truncating mutation in intracellular phospholipase A₁ gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54).Semantic proximity Read ↗

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.Semantic proximity Read ↗

A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability.Semantic proximity Read ↗

NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup.Semantic proximity Read ↗

Novel detection of mutation in the TECPR2 gene in a Chinese hereditary spastic paraplegia 49 patient: a case report.Semantic proximity Read ↗

Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).Semantic proximity Read ↗

Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56.Semantic proximity Read ↗

A novel mutation in PLP1 causes severe hereditary spastic paraplegia type 2.Semantic proximity Read ↗

Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy.Semantic proximity Read ↗

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