Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.

doi:10.1016/j.jns.2015.10.030

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Article

Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.

Journal of the neurological sciences - 15 Dec 2015

Elert-Dobkowska Ewelina, Stepniak Iwona, Krysa Wioletta, Rajkiewicz Marta, Rakowicz Maria, Sobanska Anna, Rudzinska Monika, Wasielewska Anna, Pilch Jacek, Kubalska Jolanta, Lipczynska-Lojkowska Wanda, Kulczycki Jerzy, Kurdziel Katarzyna, Sikorska Agata, Beetz Christian, Zaremba Jacek, Sulek Anna

Abstract excerpt

Hereditary spastic paraplegias (HSPs) consist of a heterogeneous group of genetically determined neurodegenerative disorders. Progressive lower extremity weakness and spasticity are the prominent features of HSPs resulting from retrograde axonal degeneration of the corticospinal tracts. Three genetic types, SPG3 (ATL1), SPG4 (SPAST) and SPG31 (REEP1), appear predominantly and may account for up to 50% of...

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Identifiers

PMID: 26671083
DOI: 10.1016/j.jns.2015.10.030

Genes

ATL1
REEP1
SPAST

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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