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

Clinical and genetic characterization of a 2-year-old boy with complete PLP1 deletion.

Brain & development - 1 Nov 2012

Torisu Hiroyuki, Iwaki Akiko, Takeshita Kenzo, Hiwatashi Akio, Sanefuji Masafumi, Fukumaki Yasuyuki, Hara Toshiro

Abstract excerpt

We report herein a case of 2-year-old boy diagnosed with a mild form of Pelizaeus-Merzbacher disease due to deletion of the entire proteolipid protein 1 (PLP1) gene. The patient demonstrated spastic quadriplegia, mental retardation, and microcephaly. He exhibited brainstem auditory evoked potentials with prolonged interpeak latencies and magnetic resonance imaging characteristics suggestive of hypomyelination in...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Chromosome Mapping

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Gene Deletion

Share to Magnetic Resonance Imaging

Share to Myelin Proteolipid Protein

Share to Pelizaeus-Merzbacher Disease

Share to Point Mutation

Source

Identifiers

PMID: 22401669
DOI: 10.1016/j.braindev.2012.02.006

Genes

PLP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and genetic characterization of a 2-year-old boy with complete PLP1 deletion.PMID 22401669Read ↗

Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders.Semantic proximity Read ↗

Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications.Semantic proximity Read ↗

Pelizaeus-Merzbacher disease, easily misdiagnosed as cerebral palsy: a report of a three-generation family.Semantic proximity Read ↗

Pelizaeus-Merzbacher Disease: Molecular and Cellular Pathologies and Associated Phenotypes.Semantic proximity Read ↗

Identification of proteolipid protein 1 gene duplication by multiplex ligation-dependent probe amplification: first report of genetically confirmed family of Pelizaeus-Merzbacher disease in Korea.Semantic proximity Read ↗

A novel proteolipid protein 1 gene mutation causing classical type Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

Pelizaeus-Merzbacher disease as a chromosomal disorder.Semantic proximity Read ↗

The molecular and cellular defects underlying Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis.Semantic proximity Read ↗

Proteolipid protein 1 gene mutation in nine patients with Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

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

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