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Current Neurology and Neuroscience Reports

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01-04-2021 | Spastic Paraplegia | Genetics (E.M. Valente, Section Editor)

Challenges and Controversies in the Genetic Diagnosis of Hereditary Spastic Paraplegia

Authors: Lydia Saputra, Kishore Raj Kumar

Published in: Current Neurology and Neuroscience Reports | Issue 4/2021

Abstract

Purpose of Review

The hereditary spastic paraplegias (HSPs) are a group of disorders characterised by progressive lower limb weakness and spasticity. We address the challenges and controversies involved in the genetic diagnosis of HSP.

Recent Findings

There is a large and rapidly expanding list of genes implicated in HSP, making it difficult to keep gene testing panels updated. There is also a high degree of phenotypic overlap between HSP and other disorders, leading to problems in choosing the right panel to analyse. We discuss genetic testing strategies for overcoming these diagnostic hurdles, including the use of targeted sequencing gene panels, whole-exome sequencing and whole-genome sequencing. Personalised treatments for HSP are on the horizon, and a genetic diagnosis may hold the key to access these treatments.

Summary

Developing strategies to overcome the challenges and controversies in HSP may hold the key to a rapid and accurate genetic diagnosis.

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Title: Challenges and Controversies in the Genetic Diagnosis of Hereditary Spastic Paraplegia
Authors: Lydia Saputra
Kishore Raj Kumar
Publication date: 01-04-2021
Publisher: Springer US
Keyword: Spastic Paraplegia
Published in: Current Neurology and Neuroscience Reports / Issue 4/2021
Print ISSN: 1528-4042
Electronic ISSN: 1534-6293
DOI: https://doi.org/10.1007/s11910-021-01099-x

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Challenges and Controversies in the Genetic Diagnosis of Hereditary Spastic Paraplegia

Abstract

Purpose of Review

Recent Findings

Summary

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Purpose of Review

Recent Findings

Summary

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