Evidence map›Paper›PMID 34627174›Full record

ArticleBMC neurology2021

Differences in peripheral neuropathy in xeroderma pigmentosum complementation groups A and D as evaluated by nerve conduction studies.

Tanya J Lehky, Paul Sackstein, Deborah Tamura, Martha Quezado, Tianxia Wu, Sikandar G Khan, Nicholas J Patronas, Edythe Wiggs, Carmen C Brewer, John J DiGiovanna and 1 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.4field-weighted citation impact, top 40% 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

6 citing papers in PubMed, 5 citations in OpenAlex.

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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

11 authors at 5 institutions in 1 country.

Tanya J LehkyEMG Section, NINDS, NIH, Bethesda, MD, USA. lehkyt@ninds.nih.gov.ORCID http://orcid.org/0000-0001-6421-505X
Paul SacksteinLaboratory of Cancer Biology and Genetics NCI, NIH, Bethesda, MD, USA.
Deborah TamuraLaboratory of Cancer Biology and Genetics NCI, NIH, Bethesda, MD, USA.
Martha QuezadoLaboratory of Pathology, NCI, NIH, Bethesda, MD, USA.
Tianxia WuClinical Trials Unit, NINDS, NIH, Bethesda, MD, USA.
Sikandar G KhanLaboratory of Cancer Biology and Genetics NCI, NIH, Bethesda, MD, USA.
Nicholas J PatronasRadiology and Imaging Sciences, CC, NIH, Bethesda, MD, USA.
Edythe WiggsClinical Trials Unit, NINDS, NIH, Bethesda, MD, USA.
Carmen C BrewerOtolaryngology Branch, NIDCD, NIH, Bethesda, MD, USA.
John J DiGiovannaLaboratory of Cancer Biology and Genetics NCI, NIH, Bethesda, MD, USA.
Kenneth H KraemerLaboratory of Cancer Biology and Genetics NCI, NIH, Bethesda, MD, USA.
Cancer Genetics (United States) · USNational Institutes of Health · USGeorgetown University · USNational Institute on Deafness and Other Communication Disorders · USNational Institutes of Health Clinical Center · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundXeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder with defective DNA nucleotide excision repair and associated with a high frequency of skin cancer. Approximately 25% of patients develop progressive neurological degeneration. Complementation groups XP-A and XP-D are most frequently associated with neurological disorders. DESIGN/

methodsThis is a retrospective review of patients with XP who were evaluated at NIH from 1986 to 2015 and had nerve conduction studies (NCS). In the complementation groups with peripheral neuropathy, further comparisons of the NCS were made with audiological, brain imaging, neuropsychological assessments that were also performed on most of the patients. Limited neuropathology of XP-A and XP-D patients were examined..

resultsThe 33 patients had NCS: XP-A (9 patients), XP-C (7 patients), XP-D (10 patients), XP-E (1 patient), XP-V (4 patients), and XP-unknown (2 patients). Peripheral neuropathy based on nerve conduction studies was documented only in two complementation groups: 78% (7/9) of XP-A patients had a sensorimotor neuropathy while 50% (5/10) of XP-D patients had a sensory neuropathy only. Analysis of sural sensory nerve amplitude in both complementation groups XP-A and XP-D correlated with sensorineural hearing loss (SNHL), MRI/CT severity, and Full-scale Intelligence Quotient (IQ). Analysis of fibular motor nerve amplitude in complementation XP-A correlated with SNHL and MRI/CT severity. Limited follow-up studies showed gradual loss of NCS responses compared to an earlier and more rapid progression of the hearing loss.

conclusionsDespite similar brain imaging and audiological findings patients, XP-A and XP-D complementation groups differ in the type of neuropathy, sensorimotor versus sensory alone. A few cases suggest that sensorineural hearing loss may precede abnormal NCS in XP and therefore serve as valuable clinical indicators of XP patients that will later develop peripheral neuropathy.

Indexed as

Peripheral Nervous System DiseasesXeroderma PigmentosumDNA RepairHumansNeural ConductionRetrospective StudiesDNA repairNeurodegenerationPeripheral neuropathySensorineural hearing lossXeroderma pigmentosum

Identifiers

PMID34627174
PMCPMC8501575
OpenAlexW3207658347

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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.