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

Abstract 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 complic...

وصف كامل

التفاصيل البيبلوغرافية

المؤلفون الرئيسيون:	Atefeh Davarzani, Moez Ravanbod, Aida Ghasemi, Mahsa Mohammadi, Mohammad Rohani, Shahriar Nafissi, Payman Jamali, Hossein Najmabadi, Farzad Fatehi, Shahryar Alavi, Zahra Firoozfar, Fariba Zemorshidi, Mohammad Reza Habibi-Kavashkohie, Afagh Alavi
التنسيق:	Artigo
اللغة:	Inglês
منشور في:	BMC 2026-05-01
سلاسل:	Orphanet Journal of Rare Diseases
الموضوعات:	Hereditary spastic paraplegia (HSP) Whole-exome sequencing (WES) Genetic heterogeneity SPG11 SPG4
الوصول للمادة أونلاين:	https://doi.org/10.1186/s13023-026-04373-8
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