Evidence map›Paper›PMID 36524102›Full record

ArticleNeurology. Genetics2022

Blended Phenotype of Prader-Willi Syndrome and HSP-

Avaneesh R Kunta, Jeremy Jueng, Catherine Jordan, Jasna Kojic, Alisa Mo, Darius Ebrahimi-Fakhari

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.6field-weighted citation impact, top 27% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 1 institution in 1 country.

Avaneesh R KuntaUniversity of Central Florida - College of Medicine (A.R.K., J.J., J.K.), Orlando; Movement Disorders Program (C.J., A.M., D.E.-F.), Department of Neurology, Boston Children's Hospital, Harvard Medical School; The Manton Center for Orphan Disease Research (D.E.-F.), Boston Children's Hospital; and Intellectual and Developmental Disabilities Research Center (D.E.-F.), Boston Children's Hospital, MA.
Jeremy JuengUniversity of Central Florida - College of Medicine (A.R.K., J.J., J.K.), Orlando; Movement Disorders Program (C.J., A.M., D.E.-F.), Department of Neurology, Boston Children's Hospital, Harvard Medical School; The Manton Center for Orphan Disease Research (D.E.-F.), Boston Children's Hospital; and Intellectual and Developmental Disabilities Research Center (D.E.-F.), Boston Children's Hospital, MA.
Catherine JordanUniversity of Central Florida - College of Medicine (A.R.K., J.J., J.K.), Orlando; Movement Disorders Program (C.J., A.M., D.E.-F.), Department of Neurology, Boston Children's Hospital, Harvard Medical School; The Manton Center for Orphan Disease Research (D.E.-F.), Boston Children's Hospital; and Intellectual and Developmental Disabilities Research Center (D.E.-F.), Boston Children's Hospital, MA.
Jasna KojicUniversity of Central Florida - College of Medicine (A.R.K., J.J., J.K.), Orlando; Movement Disorders Program (C.J., A.M., D.E.-F.), Department of Neurology, Boston Children's Hospital, Harvard Medical School; The Manton Center for Orphan Disease Research (D.E.-F.), Boston Children's Hospital; and Intellectual and Developmental Disabilities Research Center (D.E.-F.), Boston Children's Hospital, MA.
Alisa MoUniversity of Central Florida - College of Medicine (A.R.K., J.J., J.K.), Orlando; Movement Disorders Program (C.J., A.M., D.E.-F.), Department of Neurology, Boston Children's Hospital, Harvard Medical School; The Manton Center for Orphan Disease Research (D.E.-F.), Boston Children's Hospital; and Intellectual and Developmental Disabilities Research Center (D.E.-F.), Boston Children's Hospital, MA.
Darius Ebrahimi-FakhariUniversity of Central Florida - College of Medicine (A.R.K., J.J., J.K.), Orlando; Movement Disorders Program (C.J., A.M., D.E.-F.), Department of Neurology, Boston Children's Hospital, Harvard Medical School; The Manton Center for Orphan Disease Research (D.E.-F.), Boston Children's Hospital; and Intellectual and Developmental Disabilities Research Center (D.E.-F.), Boston Children's Hospital, MA.ORCID https://orcid.org/0000-0002-0026-4714
University of Central Florida · US

Funding

Genetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI SCOTT Loren POMEROY, MUSTAFA SAHIN · 2021 to 2026
$9.4M
Development of a Translational Research Platform to Understand and treat Defective Protein Trafficking in Childhood-Onset Hereditary Spastic ParaplegiaK08NS123552 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI EBRAHIMI-FAKHARI, DARIUS · 2021 to 2025
$1.1M
NICHD NIH HHS P50 HD105351NINDS NIH HHS K08 NS123552
6 · The paper itself

Abstract

Objective: Uniparental isodisomy can lead to blended phenotypes of imprinting disorders and autosomal recessive diseases. To determine whether a presentation of Prader-Willi syndrome (PWS) and progressive neurologic symptoms was caused by uniparental isodisomy, a detailed clinical and molecular characterization was performed. Methods: A combination of clinical, molecular, and imaging data was included in this study. Results: We present the case of a 12-year-old boy with a blended phenotype of PWS and hereditary spastic paraplegia type 11 (HSP- Discussion: This case highlights that atypical clinical features in patients with well-described imprinting disorders should lead to investigations for recessive conditions caused by variants in genes that localize to the region of homozygosity, including autosomal recessive forms of HSP.

Identifiers

PMID36524102
PMCPMC9747140
OpenAlexW4309928634

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.