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Novel SACS mutations in two unrelated Italian patients with spastic ataxia: clinico‐diagnostic characterization and results of serial brain MRI studies
Author(s) -
Masciullo M.,
Modoni A.,
Tessa A.,
Santorelli F. M.,
Rizzo V.,
D'Amico G.,
Laschena F.,
Tartaglione T.,
Silvestri G.
Publication year - 2012
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/j.1468-1331.2012.03752.x
Subject(s) - medicine , ataxia , hereditary spastic paraplegia , atrophy , pathology , pons , pes cavus , cerebellar ataxia , anatomy , genetics , phenotype , biology , psychiatry , gene , complication
Autosomal recessive spastic ataxia of\udCharlevoix Saguenay (ARSACS) is an\udearly-onset, slowly progressive spastic\udataxia associated with axonal-demyelinating\udpolyneuropathy, hypermyelinated\udretinal fibers, and, sometimes, with an\udIQ in the lower normal range [1]. MRI\udstudies typically show vermian, cervical,\udand dorsal spinal cord atrophy,\udand T2 and FLAIR linear hypointensities\udin the pons [2]. So far, over 70\udmutations in SACS have been\uddescribed, but the significant clinical\udvariability amongst patients – especially\udin atypical cases described outside\udQuebec [1] – limits easy genotype–\udphenotype correlations.\udHere, we describe two unrelated ARSACS\udpatients from central Italy carrying\udtwo novel mutations in SAC