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

Re-evaluation of the dysequilibrium syndrome.

Acta neurologica Scandinavica - 1 Jan 2011

Melberg A, Orlén H, Raininko R, Entesarian M, Dahlqvist J, Gustavson K H, Dahl N

Abstract excerpt

OBJECTIVES: To re-evaluate middle-aged Swedish patients diagnosed with dysequilibrium syndrome (DES) in childhood and to compare their clinical and neuroimaging features to DES with VLDLR gene mutations (DES-VLDR). MATERIALS AND METHODS: Six patients from five families underwent neurological examination and magnetic resonance imaging (MRI) of the brain. Blood samples from the patients were screened for serum...

Read the complete abstract on PubMed

Topics

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

Share to Sweden
Share to Transferrin
Share to Cerebellar Ataxia

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

Share to Cerebellum

Share to Neurologic Examination

Share to Phosphotransferases (Phosphomutases)

Share to Receptors, LDL

Share to Reference Values

Source

Identifiers

PMID: 20199520
DOI: 10.1111/j.1600-0404.2010.01335.x

Genes

DES
VLDLR

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 8 closest

Re-evaluation of the dysequilibrium syndrome.PMID 20199520Read ↗

Mutations in <i>VLDLR</i> as a Cause for Autosomal Recessive Cerebellar Ataxia With Mental Retardation (Dysequilibrium Syndrome)Semantic proximity Read ↗

A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion.Semantic proximity Read ↗

Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3.Semantic proximity Read ↗

The very low density lipoprotein receptor-associated pontocerebellar hypoplasia and dysmorphic features in three Turkish patients.Semantic proximity Read ↗

Genetic spectrum of rare neurogenetic and neurometabolic disorders in a clinically heterogeneous cohort: insights from whole-exome sequencing.Semantic proximity Read ↗

Cerebellar hypoplasia: Differential diagnosis and diagnostic approachSemantic proximity Read ↗

Intellectual Disability & Rare Disorders: A Diagnostic Challenge.Semantic proximity Read ↗

Cosegregation of congenital dysferlinopathy phenotype and marinesco-sjögren syndrome: a case report with literature review.Semantic proximity Read ↗

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