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Article

Expanding the genetic and clinical landscapes of hereditary spastic paraplegia (HSP): a cohort study of 103 families.

Orphanet journal of rare diseases - 12 May 2026

Davarzani Atefeh, Ravanbod Moez, Ghasemi Aida, Mohammadi Mahsa, Rohani Mohammad, Nafissi Shahriar, Jamali Payman, Najmabadi Hossein, Fatehi Farzad, Alavi Shahryar, Firoozfar Zahra, Zemorshidi Fariba, Habibi-Kavashkohie Mohammad Reza, Alavi Afagh

Abstract excerpt

BACKGROUND: Hereditary spastic paraplegia (HSP) refers to a heterogeneous group of genetic disorders with more than 90 causative genes. Clinically, HSP is classified into pure and complicated forms. Pure forms are characterized primarily by lower-limb spasticity and weakness, whereas complicated forms include additional neurological or non-neurological symptoms alongside spasticity and weakness. We aimed to...

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Identifiers

PMID: 42120987
DOI: 10.1186/s13023-026-04373-8
PMCID: PMC13353007

Genes

EMP3
KCNJ14
NMNAT1
SEMA3A
SPG11
SPG7

Provenance

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