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Article

Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia.

Cells - 8 Sept 2022

Perić Stojan, Marković Vladana, Candayan Ayşe, De Vriendt Els, Momčilović Nikola, Savić Andrija, Dragašević-Mišković Nataša, Svetel Marina, Stević Zorica, Božović Ivo, Mesaroš Šarlota, Drulović Jelena, Basta Ivana, Petrović Igor, Tamaš Olivera, Mijajlović Milija, Novaković Ivana, Sokić Dragoslav, Jordanova Albena

Abstract excerpt

Hereditary spastic paraplegia (HSP) is among the most genetically diverse of all monogenic diseases. The aim was to analyze the genetic causes of HSP among adult Serbian patients. The study comprised 74 patients from 65 families clinically diagnosed with HSP during a nine-year prospective period. A panel of thirteen genes was analyzed: L1CAM (SPG1), PLP1 (SPG2), ATL1 (SPG3A), SPAST (SPG4), CYP7B1 (SPG5A), SPG7...

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Identifiers

PMID: 36139378
DOI: 10.3390/cells11182804
PMCID: PMC9497238

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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