TY - JOUR
T1 - Novel SACS mutations in two unrelated Italian patients with spastic ataxia: clinico-diagnostic characterization and results of serial brain MRI studies
AU - Masciullo, Marcella
AU - Modoni, Anna
AU - Tessa, A.
AU - Santorelli, F. M.
AU - Rizzo, Valentina
AU - D'Amico, Graziella
AU - Laschena, F.
AU - Tartaglione, Tommaso
AU - Silvestri, Gabriella
PY - 2012
Y1 - 2012
N2 - 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
AB - 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
KW - SACS
KW - ataxia
KW - SACS
KW - ataxia
UR - http://hdl.handle.net/10807/31883
U2 - 10.1111/j.1468-1331.2012.03752.x
DO - 10.1111/j.1468-1331.2012.03752.x
M3 - Article
SN - 1468-1331
VL - 19
SP - e77-e77-8
JO - European Journal of Neurology
JF - European Journal of Neurology
ER -