Genetic Evaluation of Patients with Clinically Suspected Hereditary Spastic Paraplegia with Seven Novel Variants

Genetic Evaluation of Patients with Clinically Suspected Hereditary Spastic Paraplegia with Seven Novel Variants

Background and Objectives: Hereditary spastic paraplegia (HSP) is a group of neurodegenerative disorders characterized by genetic and clinical diversity. It often overlaps with other neurological conditions, such as cerebellar ataxia, which complicates diagnosis and highlights the importance of mole...

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Main Authors: Taha Reşid Özdemir, Pınar Gençpınar, Roza Sarıteke, Safa M Dagdas, Senay Haspolat, Bedile I Tiftikcioglu, Nihal Olgaç Dündar, Berk Özyılmaz
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2025-05-01
Series:Annals of Indian Academy of Neurology
Subjects:
hereditary spastic paraplegia
targeted next-generation sequencing (ngs)
novel genetic variants
molecular diagnosis
neurodegenerative disorders
genetic heterogeneity
Online Access:https://journals.lww.com/10.4103/aian.aian_1068_24
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https://journals.lww.com/10.4103/aian.aian_1068_24

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