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

Unilateral diffuse white matter involvement in a patient with atypical FMR1 mutation.

Clinical neurology and neurosurgery - 1 Oct 2020

Park Kang Min, Jun Kyung Ran, Lee Ho-Joon, Park Seongho, Kim Sung Eun

Abstract excerpt

A 62-year-old man without relevant medical history visited our emergency department with seizure. His brain MRI revealed diffuse high signal intensity in the white matter with some cortical involvement in the dorsolateral prefrontal area and middle frontal gyrus on FLAIR sequence, which were only confined to the left hemisphere. In his whole exome sequencing, a hemizygous variant, NM_001185081.1:c.1216C>T, was...

Read the complete abstract on PubMed

Topics

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

Share to Brain

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fragile X Mental Retardation Protein

Share to Magnetic Resonance Imaging

Share to Mutation

Share to Seizures

Share to White Matter

Source

Identifiers

PMID: 32866933
DOI: 10.1016/j.clineuro.2020.106182

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Unilateral diffuse white matter involvement in a patient with atypical FMR1 mutation.PMID 32866933Read ↗

A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosisSemantic proximity Read ↗

Identification of a de novo splicing mutation in the CSF1R gene in a Chinese patient with hereditary diffuse leukoencephalopathy with spheroids.Semantic proximity Read ↗

Clinical Heterogeneity in a Scandinavian FMR1 Premutation Carrier Cohort and Basal Ganglia Atrophy in FXTAS.Semantic proximity Read ↗

Clinical and genetic characteristics of CSF1R-related leukoencephalopathy: a retrospective analysis of three cases.Semantic proximity Read ↗

Adult-onset vanishing white matter in a patient with EIF2B3 variants misdiagnosed as multiple sclerosis.Semantic proximity Read ↗

Neurological Manifestations in Familial Mediterranean Fever: Results of 22 Children from a Reference Center in Kayseri, an Urban Area in Central Anatolia, Turkey.Semantic proximity Read ↗

MELAS with mtDNA 3243A>G mutation presenting as bilateral symmetric occipital and temporal cortices lesions: a case report and literature reviewSemantic proximity Read ↗

A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids.Semantic proximity Read ↗

Asymmetric focal cortical atrophy in CSF1R-related leukoencephalopathy; case report.Semantic proximity Read ↗

Genotypic and phenotypic characteristics of juvenile/adult onset vanishing white matter: a series of 14 Chinese patients.Semantic proximity Read ↗

A case of hereditary diffuse leukoencephalopathy with axonal spheroids caused by a de novo mutation in CSF1R masquerading as primary progressive multiple sclerosis.Semantic proximity Read ↗

Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients.Semantic proximity Read ↗

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