Evidence map›Paper›PMID 34987232›Full record

ReviewNature reviews. Neurology2022

Neurogenetic disorders across the lifespan: from aberrant development to degeneration.

Richard A Hickman, Sarah A O'Shea, Mark F Mehler, Wendy K Chung

Open access · greenAbstract readReview
In one paragraph

Review in Nature reviews. Neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
31citing papers in PubMed, 3 pooled it
8.0field-weighted citation impact, top 2% 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

31 citing papers in PubMed, 3 syntheses or guidelines pooled it, 47 citations in OpenAlex.

  1. Pooled it
  2. Neurodevelopmental disorders in childhood-onset hereditary spastic paraplegia type 7: a case series and review of literature.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
    Pooled it
  3. Pooled it
  4. Article
  5. Article
  6. Review
  7. Brain morphometry and cognition in late-onset glutaric aciduria type 1: scoping review and novel insights from a case report.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
    Article
  8. Review
  9. Observational
  10. Article
  11. Article
  12. Review
  13. Review
  14. Clinical factors associated with genetic diagnosis in suspected neurogenetic disorders in a tertiary care clinic.Genetics in medicine : official journal of the American College of Medical Genetics · 2025
    Article
  15. Review
  16. Review
  17. Article
  18. Review
  19. Article
  20. 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

4 authors at 4 institutions in 1 country.

Richard A Hickman *Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.ORCID http://orcid.org/0000-0002-8329-6083
Sarah A O'Shea *Department of Neurology, Boston University School of Medicine, Boston, MA, USA.
Mark F MehlerThe Saul R. Korey Department of Neurology, Albert Einstein College of Medicine, New York, NY, USA.ORCID http://orcid.org/0000-0003-0674-7781
Wendy K ChungDepartment of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA. wkc15@columbia.edu.ORCID http://orcid.org/0000-0003-3438-5685
Albert Einstein College of Medicine · USBoston University · USColumbia University Irving Medical Center · USMemorial Sloan Kettering Cancer Center · US

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI SELWYN M VICKERS · 1985 to 2026
$347.4M
Satellite Diagnostic and Treatment Clinic CoreP50AG008702 · NIA · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI DE JAGER, PHILIP L · 1989 to 2019
$46.3M
Research Education CoreP30AG066462 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI PHILIP L DE JAGER · 2020 to 2026
$30.1M
Interneurons as Early Drivers of Huntington´s Disease ProgressionR01NS125260 · NINDS · ALBERT EINSTEIN COLLEGE OF MEDICINE · PI Mark F Mehler · 2022 to 2026
$3.5M
Huntington's disease: a novel developmental oligodendrogliopathyR01NS096144 · NINDS · ALBERT EINSTEIN COLLEGE OF MEDICINE, INC · PI MEHLER, MARK F · 2016 to 2020
$1.8M
Using cortico-striatal evolutionary innovations for modeling Huntington's diseaseR21OD025320 · OD · ALBERT EINSTEIN COLLEGE OF MEDICINE, INC · PI MEHLER, MARK F · 2018 to 2019
$459k
Development of a Conditional Inducible Huntington’s Disease Murine Model to Study Complex Pathogenic MechanismsR03NS125224 · NINDS · ALBERT EINSTEIN COLLEGE OF MEDICINE · PI MEHLER, MARK F · 2021 to 2021
$168k
NCI NIH HHS P30 CA008748NIA NIH HHS P30 AG066462NIA NIH HHS P30 AG066462-01NIA NIH HHS P50 AG008702NIH HHS R21 OD025320NINDS NIH HHS R01 NS096144NINDS NIH HHS R01 NS125260NINDS NIH HHS R03 NS125224
6 · The paper itself

Abstract

Intellectual disability and autism spectrum disorder (ASD) are common, and genetic testing is increasingly performed in individuals with these diagnoses to inform prognosis, refine management and provide information about recurrence risk in the family. For neurogenetic conditions associated with intellectual disability and ASD, data on natural history in adults are scarce; however, as older adults with these disorders are identified, it is becoming clear that some conditions are associated with both neurodevelopmental problems and neurodegeneration. Moreover, emerging evidence indicates that some neurogenetic conditions associated primarily with neurodegeneration also affect neurodevelopment. In this Perspective, we discuss examples of diseases that have developmental and degenerative overlap. We propose that neurogenetic disorders should be studied continually across the lifespan to understand the roles of the affected genes in brain development and maintenance, and to inform strategies for treatment.

Indexed as

Autism Spectrum DisorderIntellectual DisabilityAgedGenetic TestingHumansLongevity

Identifiers

PMID34987232
PMCPMC10132523
OpenAlexW4206547408

What OpenQuestion holds

Textmetadata
LicenceTDM
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.