Evidence map›Paper›PMID 38594844›Full record

ArticleMovement disorders clinical practice2024

Assessing Long-Term Neurologic Outcomes in SAMD9L-Related Ataxia-Pancytopenia Syndrome.

Carla D Zingariello, Dong-Hui Chen, Wendy H Raskind, William B Slayton, Sub Subramony, Joyce Severance, Megan Feagle, Sonja A Rasmussen

Open access · hybridAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Movement disorders clinical practice, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact, top 95% 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

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

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

8 authors at 5 institutions in 1 country.

Carla D ZingarielloDepartment of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA.
Dong-Hui ChenDepartment of Neurology, University of Washington, Seattle, Washington, USA.
Wendy H RaskindDepartment of Medicine/Medical Genetics, University of Washington, Seattle, Washington, USA.
William B SlaytonDepartment of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA.
Sub SubramonyDepartment of Neurology, University of Florida College of Medicine, Gainesville, Florida, USA.
Joyce SeveranceUF Health Rehab Center for Kids at Magnolia Parke, University of Florida, Gainesville, Florida, USA.
Megan FeagleUF Health Rehab Center for Kids at Magnolia Parke, University of Florida, Gainesville, Florida, USA.
Sonja A RasmussenDepartment of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
University of Florida · USUniversity of Florida Health · USJohns Hopkins University · USUniversity of Washington · USUniversity of Washington Medical Center · US

Funding

Next Generation gene discovery in neurogeneticsR01NS069719 · NINDS · UNIVERSITY OF WASHINGTON · PI RASKIND, WENDY H · 2010 to 2019
$5.0M
Genetic Movement Disorders: Etiologies and PathogenesesI01CX001702 · VA · VA PUGET SOUND HEALTHCARE SYSTEM · PI CYRUS P ZABETIAN · 2018 to 2026
–
Center for Integrated Healthcare, U.S. Department of Veterans Affairs 101 CX001702CLC NIH HHS R01NS069719CSRD VA I01 CX001702NINDS NIH HHS R01 NS069719
6 · The paper itself

Abstract

backgroundMost published reports on SAMD9L-related ataxia-pancytopenia syndrome (ATXPC) have emphasized the hematologic findings. Fewer details are known about the progression of neurologic manifestations and methods for monitoring them. CASES: We present six individuals from two families transmitting a heterozygous variant in SAMD9L, exhibiting clinical variations in their hematologic and neurologic findings. Serial motor function testing was used to monitor motor proficiency over a 2 to 3 year period in the proband and his father from Family 1.

conclusionsOur case series focuses on the neurologic progression in patients with heterozygous variants in SAMD9L. Patients with ATXPC should be followed to evaluate a wide range of neurologic manifestations. Serial motor function testing using a standardized method is helpful to track changes in balance and coordination in children and adults with ATXPC and could aid in a future extended natural history study.

Indexed as

AtaxiaAdolescentAdultChildChild, PreschoolDisease ProgressionFemaleHumansIntracellular Signaling Peptides and ProteinsMaleMiddle AgedTumor Suppressor ProteinsYoung AdultIntracellular Signaling Peptides and ProteinsSAMD9L protein, humanTumor Suppressor Proteinsataxiaataxia‐pancytopenia syndromeATXPCSAMD9L

Identifiers

PMID38594844
PMCPMC11145150
OpenAlexW4394688259

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Registered trials

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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.