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Article

Anticipation Can Be More Common in Hereditary Spastic Paraplegia with SPAST Mutations Than It Appears.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques - 1 Sept 2022

Hashemi Seyyed-Saleh, Hajati Reza, Davarzani Atefeh, Rohani Mohammad, DanaeeFard Fardad, Rahimi Bidgoli Mohammad Masoud, Fatehi Farzad, Kariminejad Ariana, Najmabadi Hossein, Nafissi Shahriar, Alavi Afagh

Abstract excerpt

BACKGROUND AND OBJECTIVE: Hereditary spastic paraplegia (HSP) is a heterogeneous neurodegenerative disorder with lower-limb spasticity and weakness. Different patterns of inheritance have been identified in HSP. Most autosomal-dominant HSPs (AD-HSPs) are associated with mutations of the SPAST gene (SPG4), leading to a pure form of HSP with variable age-at-onset (AAO). Anticipation, an earlier onset of disease, as...

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PMID: 34353391
DOI: 10.1017/cjn.2021.188

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