Evidence map›Paper›PMID 41199121›Full record

Observational studyAnnals of clinical and translational neurology2026

Health-Related Quality of Life in Rare Forms of Childhood-Onset Hereditary Spastic Paraplegia.

Henri J D Schmidt, Nicole Battaglia, Joshua Rong, Amy Tam, Siofra Carty, Vicente Quiroz, Kathryn Yang, Zainab Zaman, Luca Schierbaum, Katerina Bernardi and 2 more

Registry-linked trialAbstract readObservational Study
PubMed Full text at PMC Publisher
In one paragraph

Observational study in Annals of clinical and translational neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04712812 (Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia), which is not on this 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.

NCT04712812 recruitingnot on this map

Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia (HSP)

Typeobservational_patient_registrySponsorBoston Children's HospitalRan2020 to 2030Enrolled700ConditionsHereditary Spastic Paraplegia, SPG47, SPG50, SPG51
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

12 authors.

Henri J D SchmidtMovement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.ORCID 0009-0000-1058-1177
Nicole BattagliaMovement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.ORCID 0009-0008-9751-4580
Joshua RongMovement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Amy TamMovement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.ORCID 0000-0003-2072-3436
Siofra CartyMovement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Vicente QuirozMovement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Kathryn YangMovement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Zainab ZamanMovement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Luca SchierbaumMovement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Katerina BernardiMovement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Julian E AlecuMovement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.ORCID 0000-0002-1420-9775
Darius Ebrahimi-FakhariMovement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.ORCID 0000-0002-0026-4714

Funding

Spastic Paraplegia Centers of Excellence Research Network (SP-CERN) - RDCRCU54NS148312 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI Joshua Burns · 2025 to 2026
$5.0M
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
NINDS NIH HHS 1U54NS148312NINDS NIH HHS K08 NS123552NINDS NIH HHS K08NS123552NINDS NIH HHS U54 NS148312Spastic Paraplegia Foundation
6 · The paper itself

Abstract

We assessed health-related quality of life (HRQoL) in 80 children with rare hereditary spastic paraplegias using the Caregiver Priorities and Child Health Index of Life with Disabilities and clinician-reported outcomes. HRQoL was consistently reduced, particularly in relation to motor, autonomic, and bulbar symptoms. Children with complex HSP phenotypes had lower scores than those with pure forms. Scores correlated with established clinical scales but declined with age only in HSP-SPG11 and HSP-ZFYVE26. These findings identify key determinants of reduced quality of life and highlight clinical targets for supportive interventions in childhood-onset hereditary spastic paraplegia. Trial Registration: Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia: NCT04712812.

Indexed as

Quality of LifeSpastic Paraplegia, HereditaryAdolescentAge of OnsetChildChild, PreschoolFemaleHumansMaleRegistrieshereditary spastic paraplegianatural history studyquality of lifeSPG11SPG15

Identifiers

PMID41199121
PMCPMC12790169

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Registered trials

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.