Evidence map›Paper›PMID 40951110›Full record

ArticleCureus2025

Evidence of Dual Molecular Diagnosis of a Young Male Patient With Hereditary Spastic Paraplegia Carrying Two Rare Autosomal Mutations.

Yossy Machluf, Majd Said, Yigal Chechik, Shifra Ben-Dor, Yoram Chaiter

Abstract readCase Reports
In one paragraph

Article in Cureus, 2025. 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
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.

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

5 authors.

Yossy MachlufMedical Corps, Israel Defense Forces, Tel Hashomer, ISR.
Majd SaidMedical Corps, Israel Defense Forces, Tel Hashomer, ISR.
Yigal ChechikMedical Corps, Israel Defense Forces, Tel Hashomer, ISR.
Shifra Ben-DorDepartment of Life Sciences Core Facilities, Weizmann Institute of Science, Rehovot, ISR.
Yoram ChaiterMedical Corps, Israel Defense Forces, Tel Hashomer, ISR.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hereditary spastic paraplegia (HSP) is a group of disorders that mostly affect the upper motor neurons of the spinal cord, with varying inheritance patterns and clinical presentations. We present the case of an 18-year-old male patient who was medically evaluated at a recruitment center due to non-specific complaints of joint pain and difficulty breathing over several years, without an established diagnosis or treatment. Physical examination revealed significant asymmetric muscle weakness in both legs and asymmetrical patellar reflexes. The patient was referred to diverse specialists and underwent a series of diagnostic tests, including blood work, serology, electromyography, nerve conduction tests, and magnetic resonance imaging of the brain and spine. No specific pathology related to the patient's symptoms was identified. Genetic testing, however, revealed heterozygous likely pathogenic variants in both

Indexed as

dstykdual molecular diagnosisgenetic variantshereditary spastic paraplegia (hsp)neurodegenerative disorderszfyve27

Identifiers

PMID40951110
PMCPMC12432288

What OpenQuestion holds

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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.