Evidence map›Paper›PMID 30551598›Full record

ReviewBrain sciences2018

The Genetic Diagnosis of Neurodegenerative Diseases and Therapeutic Perspectives.

Julio-César García, Rosa-Helena Bustos

Abstract readReview
In one paragraph

Review in Brain sciences, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.

0numbers the graph read from it
0cells of the map it votes in
22citing 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

22 citing papers in PubMed.

  1. Deciding on genetic testing for familial dementia: Perspectives of patients and families.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
    Article
  2. Review
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  5. Mitochondrial Inherited Disorders and their Correlation with Neurodegenerative Diseases.Endocrine, metabolic & immune disorders drug targets · 2024
    Review
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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

2 authors.

Julio-César GarcíaEvidence-Based Therapeutics Group, Department of Clinical Pharmacology, Universidad de La Sabana, Chía 140013, Colombia. julio.garcia@unisabana.edu.co.ORCID 0000-0002-1136-848X
Rosa-Helena BustosEvidence-Based Therapeutics Group, Department of Clinical Pharmacology, Universidad de La Sabana, Chía 140013, Colombia. rosa.bustos@unisabana.edu.co.ORCID 0000-0003-0243-2299

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genetics has led to a new focus regarding approaches to the most prevalent diseases today. Ascertaining the molecular secrets of neurodegenerative diseases will lead to developing drugs that will change natural history, thereby affecting the quality of life and mortality of patients. The sequencing of candidate genes in patients suffering neurodegenerative pathologies is faster, more accurate, and has a lower cost, thereby enabling algorithms to be proposed regarding the risk of neurodegeneration onset in healthy persons including the year of onset and neurodegeneration severity. Next generation sequencing has resulted in an explosion of articles regarding the diagnosis of neurodegenerative diseases involving exome sequencing or sequencing a whole gene for correlating phenotypical expression with genetic mutations in proteins having key functions. Many of them occur in neuronal glia, which can trigger a proinflammatory effect leading to defective proteins causing sporadic or familial mutations. This article reviews the genetic diagnosis techniques and the importance of bioinformatics in interpreting results from neurodegenerative diseases. Risk scores must be established in the near future regarding diseases with a high incidence in healthy people for defining prevention strategies or an early start for giving drugs in the absence of symptoms.

Indexed as

Alzheimer’s disease (AD)amyotrophic lateral sclerosis (ALS)diagnosisgenetic biomarkerneurodegenerative diseasenext generation sequencing (NGS)Parkinson’s disease (PD)

Identifiers

PMID30551598
PMCPMC6316116

What OpenQuestion holds

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Registered trials

None linked

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.