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01-05-2018 | Short Communication

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

Authors: Francesco Mari, Beatrice Berti, Alessandro Romano, Jacopo Baldacci, Riccardo Rizzi, M. Grazia Alessandrì, Alessandra Tessa, Elena Procopio, Anna Rubegni, Charles Marques Lourenḉo, Alessandro Simonati, Renzo Guerrini, Filippo Maria Santorelli

Published in: Neurogenetics | Issue 2/2018

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.

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Title: Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review
Authors: Francesco Mari
Beatrice Berti
Alessandro Romano
Jacopo Baldacci
Riccardo Rizzi
M. Grazia Alessandrì
Alessandra Tessa
Elena Procopio
Anna Rubegni
Charles Marques Lourenḉo
Alessandro Simonati
Renzo Guerrini
Filippo Maria Santorelli
Publication date: 01-05-2018
Publisher: Springer Berlin Heidelberg
Published in: Neurogenetics / Issue 2/2018
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-018-0538-8

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

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

Abstract

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

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