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Article

Novel ERLIN2 variant expands the phenotype of Spastic Paraplegia 18.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jun 2024

de Souza Guilherme Carvalho, Malta Maria Carolina, Santos Mirele Raíssa Silva, Fontes Marshall Ítalo Barros, de Sousa Anjos Juliana Lopes, Ribeiro Diego Patrício, Kok Fernando, Figueiredo Thalita

Abstract excerpt

BACKGROUND: The Brazilian Northeast region is notable for its high prevalence of consanguineous marriages and isolated populations, which has led to a significant prevalence of rare genetic disorders. This study describes the clinical presentation of four affected individuals from the same family, comprising two siblings and their cousins, with ages ranging from 11 to 20 years. METHODS: In a small and isolated...

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PMID: 38159148
DOI: 10.1007/s10072-023-07271-0

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