Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review

Francesco Mari, B Berti, A Romano, J Baldacci, R Rizzi, M Grazia Alessandrì, A Tessa, E Procopio, A Rubegni, CM Lourenḉo, A Simonati, R Guerrini, FM Santorelli

Research output: Contribution to journalArticlepeer-review

Abstract

Spastic paraplegia 35 (SPG35) is a recessive condition characterized by childhood onset, progressive course, complicated by dystonia, dysarthria, cognitive impairment, and epilepsy. Mutations in the FA2H gene have been described in several families, leading to the proposal of a single entity, named fatty acid hydrolase-associated neurodegeneration (FAHN). Several reports have described a polymorphic radiological picture with white matter lesions of various degrees and a distinct form of neurodegeneration with brain iron accumulation. While we reviewed the pertinent literature, we also report three new patients with SPG35, highlighting the possible absence of white matter lesions even after a long neuroimaging follow-up. Three-dimensional modeling of the mutated proteins was helpful to elucidate the role of the site of mutations and the correlation with the residual enzyme activity as determined in cultured skin fibroblasts. © 2018 Springer-Verlag GmbH Germany, part of Springer Nature
Original languageEnglish
Pages (from-to)123-130
Number of pages8
JournalNeurogenetics
Volume19
Issue number2
DOIs
Publication statusPublished - 2018

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