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

European Journal of Neurology

Volumn 19, Issue 8, 2012, Pages

  Masciullo, M ^a,b   Modoni, A ^a   Tessa, A ^c   Santorelli, F M ^c   Rizzo, V ^a   D'Amico, G ^a   Laschena, F ^d   Tartaglione, T ^e   Silvestri, G ^a  

^a CATHOLIC UNIVERSITY   (Italy)

^b IRCCS SAN RAFFAELE PISANA   (Italy)

^c DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^d LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

^e Istituto di Radiologia di Universita Cattolica del Sacro Cuore di Roma   (Italy)

Author keywords

ARSACS; Brain MRI; Sacsin; Spastic ataxia

Indexed keywords

ADULT; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX SAGUENAY; CASE REPORT; CEREBELLUM VERMIS; ELECTROMYOGRAM; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; ITALY; LETTER; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYNEUROPATHY; PRIORITY JOURNAL; SPASTIC PARAPLEGIA; SPASTICITY; SPINAL CORD ATROPHY;

ADULT; BRAIN; FEMALE; HEAT-SHOCK PROTEINS; HUMANS; ITALY; MAGNETIC RESONANCE IMAGING; MUSCLE SPASTICITY; MUTATION; SPINOCEREBELLAR ATAXIAS;

EID: 84863876440     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2012.03752.x     Document Type: Letter

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