Evidence map›Paper›PMID 42182620›Full record

ArticleNeurology. Genetics2026

Compound Heterozygous

Gianpaolo Cicala, Elisa Rolleri, Beatrice Berti, Marco Luigetti, Nicola Forcina, Marianna Villa, Anna Capasso, Chiara Arpaia, Martina Malaspina, Fabiana Fattori and 7 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2026. 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

17 authors.

Gianpaolo CicalaPediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.ORCID https://orcid.org/0009-0005-9997-8029
Elisa RolleriPediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.ORCID https://orcid.org/0009-0004-6613-3524
Beatrice BertiCentro Clinico Nemo, Fondazione Agostino Gemelli IRCCS, Rome, Italy.
Marco LuigettiFondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.ORCID https://orcid.org/0000-0001-7539-505X
Nicola ForcinaFondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Marianna VillaCentro Clinico Nemo, Fondazione Agostino Gemelli IRCCS, Rome, Italy.ORCID https://orcid.org/0009-0002-6917-8459
Anna CapassoPediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.ORCID https://orcid.org/0000-0003-4061-4501
Chiara ArpaiaPediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.ORCID https://orcid.org/0000-0001-6193-6249
Martina MalaspinaPediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.ORCID https://orcid.org/0009-0008-1473-0967
Fabiana FattoriLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Luca BoscoLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.ORCID https://orcid.org/0000-0003-4121-1798
Guido PrimianoFondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.ORCID https://orcid.org/0000-0001-7616-7008
Antonio NovelliLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.ORCID https://orcid.org/0000-0002-9037-4297
Teresa RizzaLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.ORCID https://orcid.org/0000-0003-4020-975X
Enrico BertiniUnit of Muscular and Neurodegenerative Disorders, Bambino Gesù Children Research Hospital, IRCCS, Rome, Italy.ORCID https://orcid.org/0000-0001-9276-4590
Marika PanePediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.ORCID https://orcid.org/0000-0002-4851-6124
Eugenio MercuriPediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.ORCID https://orcid.org/0000-0002-9851-5365

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: Variants in Methods: Patients were identified based on clinical presentation and evaluated through longitudinal neurologic, neurophysiologic, genetic, biochemical, and neuroimaging assessments. Results: The elder brother developed symptoms at age 12, including muscle cramps, tremors, and falls, whereas the sister showed motor impairment with difficulty walking and running from age 5, along with more prominent cerebellar involvement. Shared features included distal weakness, impaired gait, areflexia, tremor, pes cavus, sensory disturbances, and cognitive difficulties, which were milder in the older brother. Nerve conduction studies demonstrated axonal sensorimotor polyneuropathy. Genetic analysis identified 2 compound heterozygous Discussion: These cases expand the clinical spectrum of

Identifiers

PMID42182620
PMCPMC13196336

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.