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

Overlapping clinical symptoms and laboratory findings between HSP and other neurological disorders frequently delay diagnosis, emphasizing the necessity of evaluating germline mutations in HSP genes for patients with suspected HSP to achieve a precise diagnosis. This study also contributes to the literature by reporting seven novel variants, enhancing the genetic understanding of HSP.

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Publication Details

Journal
Annals of Indian Academy of Neurology
Published
2025-05-01
DOI
https://doi.org/10.4103/aian.aian_1068_24
Primary Topic
Hereditary Neurological Disorders
Type
article
Field-Weighted Citation Impact
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article

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

Pınar Gençpınar, Nihal Olgaç Dündar, Berk Özyılmaz, Şenay Haspolat et al.
Annals of Indian Academy of Neurology
Hereditary Neurological Disorders
article

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

Pınar Gençpınar, Nihal Olgaç Dündar, Berk Özyılmaz, Şenay Haspolat, Bedile İrem Tiftikçioğlu, Taha Reşid Özdemir, Safa Mete Dağdaş, Roza Sarıteke
article en

Abstract

Overlapping clinical symptoms and laboratory findings between HSP and other neurological disorders frequently delay diagnosis, emphasizing the necessity of evaluating germline mutations in HSP genes for patients with suspected HSP to achieve a precise diagnosis. This study also contributes to the literature by reporting seven novel variants, enhancing the genetic understanding of HSP.

Annals of Indian Academy of NeurologyVol. 28(3)
Izmir University (TR), Akdeniz University (TR), Izmir Kâtip Çelebi University (TR), Sağlık Bilimleri Üniversitesi (TR)
Good health and well-being
Openalex Percentile: Top 87%
Hereditary Neurological Disorders
DOIOpen Access PDFOpenAlex
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Genetic Evaluation of Patients with Clinically Suspected Hereditary Spastic Paraplegia with Seven Novel Variants — Pınar Gençpınar, Nihal Olgaç Dündar, et al. · Annals of Indian Academy of Neurology (2025) | TGRS Research Map | TGRS