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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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[AP4-assocated hereditary spastic paraplegias].

G E Rudenskaya1, D M Guseva1, O L Mironovich1

  • 1Research Centre for Medical Genetics, Moscow, Russia.

Zhurnal Nevrologii I Psikhiatrii Imeni S.S. Korsakova
|March 17, 2021
PubMed
Summary

AP4-associated spastic paraplegia (SPG) forms were identified in Russian patients, accounting for 4.2% of all SPG cases. Early-onset neurological symptoms necessitate consideration of these genetic disorders.

Keywords:
AP4B1 geneAP4E1 geneSPG47SPG51common mutationepilepsymental retardationmicrocephalyspastic paraparesis

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Area of Science:

  • Genetics and Neurology
  • Neurodegenerative Diseases
  • Rare Genetic Disorders

Background:

  • Spastic paraplegias (SPGs) are a heterogeneous group of inherited neurological disorders.
  • AP4-associated SPGs are rare but significant subtypes requiring specific diagnostic approaches.
  • Previous studies have not fully characterized the prevalence and molecular basis of AP4-SPGs in Russian populations.

Purpose of the Study:

  • To detect AP4-associated spastic paraplegia (SPG) forms in Russian patients.
  • To estimate the proportion of AP4-SPGs within the broader SPG group.
  • To analyze the clinical and molecular characteristics of identified AP4-SPG cases.

Main Methods:

  • Studied five families of Russian ethnicity with suspected SPG.
  • Employed clinical and genealogical methods for patient assessment.
  • Utilized whole-exome sequencing (WES) and Sanger sequencing for genetic analysis.

Main Results:

  • AP4-associated SPGs constituted 4.2% of the total SPG cohort (118 families).
  • SPG47 was the predominant form (3.4%), ranking 5th in the overall SPG structure.
  • Identified both known and novel mutations in AP4B1 and AP4E1 genes, with a potential founder effect for a common mutation in Slavic populations.

Conclusions:

  • AP4-associated SPGs should be considered in early-onset severe neurological disorders.
  • These conditions can mimic non-genetic central nervous system disorders.
  • Whole-exome sequencing is crucial for diagnosing AP4-associated SPGs and other genetic neurological diseases.