Carla Babalini

TL;DR: It is indicated that mutations in the spatascin gene could cause a much wider spectrum of clinical features than previously recognized, including autosomal recessive juvenile amyotrophic lateral sclerosis.

TL;DR: The results directly implicate a reticulon protein in axonopathy, show that this protein participates in a network of interactions among HSP proteins involved in ER shaping, and further support the hypothesis that abnormal ER morphogenesis is a pathogenic mechanism in HSP.

TL;DR: A novel R416C missense mutation in the SPG3A gene is detected in a South African Zulu family with ADHSP and atypical clinical characteristics, and sequence analyses of the known genes causing HSP with mental retardation and TCC showed no pathological nucleotide changes.

TL;DR: A novel sporadic case of SPG56 is described, a rare complicated form of HSP, that expands the clinical and molecular spectrum of the disease, being associated to novel mutations in CYP2U1 and showing as novel feature dorsal hydromyelia at spinal cord MRI.

TL;DR: The aim of this study was to investigate the SPG4 mutation profile in Romanian patients with spastic paraplegia and to describe them in the context of the corresponding clinical phenotype.