Novel SACS mutations in two unrelated Italian patients with spastic ataxia: clinico-diagnostic characterization and results of serial brain MRI studies

Tommaso Tartaglione, Gabriella Silvestri, Marcella Masciullo, Anna Modoni, Valentina Rizzo, Graziella D'Amico, A. Tessa, F. M. Santorelli, F. Laschena

Risultato della ricerca: Contributo in rivistaArticolo in rivista

4 Citazioni (Scopus)

Abstract

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS) is an early-onset, slowly progressive spastic ataxia associated with axonal-demyelinating polyneuropathy, hypermyelinated retinal fibers, and, sometimes, with an IQ in the lower normal range [1]. MRI studies typically show vermian, cervical, and dorsal spinal cord atrophy, and T2 and FLAIR linear hypointensities in the pons [2]. So far, over 70 mutations in SACS have been described, but the significant clinical variability amongst patients – especially in atypical cases described outside Quebec [1] – limits easy genotype– phenotype correlations. Here, we describe two unrelated ARSACS patients from central Italy carrying two novel mutations in SACS
Lingua originaleEnglish
pagine (da-a)e77-e77-8
RivistaEUROPEAN JOURNAL OF NEUROLOGY
Volume19
DOI
Stato di pubblicazionePubblicato - 2012

Keywords

  • SACS
  • ataxia

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