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Background <p>Hereditary spastic paraplegia (HSP) is a complex neurological disorder with significant genetic heterogeneity. Overlapping clinical presentations and population-specific genetic variants pose challenges to differential diagnosis and genetic studies.</p> Objective <p>To identify and characterize genetic variants associated with HSP and related syndromes in a Turkish cohort, emphasizing potential novel findings and inheritance patterns.</p> Methods <p>45 patients were clinically diagnosed with HSP or related phenotypes and their demographic and clinical details were recorded. Clinical exome sequencing (CES) was employed to identify pathogenic and likely pathogenic variants. Variants were classified using ACMG guidelines and critical variants were confirmed by Sanger sequencing.</p> Results <p>The cohort included 16 females (35.5%) and 29 males (64.5%), aged 3&#xa0;months to 72&#xa0;years. Consanguinity was identified in 70.4% of cases with reported parental data. Pathogenic or likely pathogenic variants were detected in 66.7% of patients. Commonly affected genes included <i>SPAST</i> (17.8%), <i>SPG7</i> (13.3%), and <i>SPG11</i> (11.1%). Fifteen novel variants were identified, expanding the known genetic spectrum of HSP.</p> Conclusions <p>This study highlights the clinical utility of CES in diagnosing HSP and related disorders, identifies novel genetic variants, and provides evidence for complex inheritance mechanisms. These findings enhance the understanding of the genetic landscape of HSP, particularly in the Turkish population.</p>

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Decoding Genomic Variants in a Turkish Cohort of Patients with Spasticity

  • 期刊论文

  • 发表日期：

    2025年8月5日

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  • Abdullatif Bakır,
  • Hanife Saat,
  • Haktan Bagis Erdem,
  • Abdullah Sezer,
  • Elifcan Taşdelen,
  • Firdevs Dinçsoy Bir,
  • Halil Onder,
  • Selim Selçuk Çomoğlu,
  • Hasan Huseyin Kazan

摘要

Background

Hereditary spastic paraplegia (HSP) is a complex neurological disorder with significant genetic heterogeneity. Overlapping clinical presentations and population-specific genetic variants pose challenges to differential diagnosis and genetic studies.

Objective

To identify and characterize genetic variants associated with HSP and related syndromes in a Turkish cohort, emphasizing potential novel findings and inheritance patterns.

Methods

45 patients were clinically diagnosed with HSP or related phenotypes and their demographic and clinical details were recorded. Clinical exome sequencing (CES) was employed to identify pathogenic and likely pathogenic variants. Variants were classified using ACMG guidelines and critical variants were confirmed by Sanger sequencing.

Results

The cohort included 16 females (35.5%) and 29 males (64.5%), aged 3 months to 72 years. Consanguinity was identified in 70.4% of cases with reported parental data. Pathogenic or likely pathogenic variants were detected in 66.7% of patients. Commonly affected genes included SPAST (17.8%), SPG7 (13.3%), and SPG11 (11.1%). Fifteen novel variants were identified, expanding the known genetic spectrum of HSP.

Conclusions

This study highlights the clinical utility of CES in diagnosing HSP and related disorders, identifies novel genetic variants, and provides evidence for complex inheritance mechanisms. These findings enhance the understanding of the genetic landscape of HSP, particularly in the Turkish population.