A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy

European Journal of Neurology

Volumn 20, Issue 11, 2013, Pages 1486-1491

  Gregianin, E ^a   Vazza, G ^a   Scaramel, E ^a   Boaretto, F ^a   Vettori, A ^a   Leonardi, E ^a   Tosatto, S C E ^a   Manara, R ^a   Pegoraro, E ^a   Mostacciuolo, M L ^a  

^a UNIVERSITY OF PADOVA   (Italy)

Author keywords

ARSACS; Linkage analysis; Mutation identification; Peripheral neuropathy; Spastic paraplegia

Indexed keywords

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX SAGUENAY; BINDING KINETICS; CASE REPORT; CEREBELLAR ATAXIA; CHROMOSOME 13Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; COPY NUMBER VARIATION; ELECTROMYOGRAPHY; FAMILY HISTORY; GENE; GENE FREQUENCY; GENETIC SCREENING; GENOTYPE; HAPLOTYPE; HOMOZYGOSITY; HUMAN; LATERAL BRAIN VENTRICLE; LINKAGE ANALYSIS; MALE; MIDDLE CEREBELLAR PEDUNCLE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE ANALYSIS; PERIPHERAL NEUROPATHY; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN SECONDARY STRUCTURE; SACS GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SPASTIC PARAPLEGIA; CONSANGUINITY; GENETICS; HOMOZYGOTE; ITALY; MIDDLE AGED; PARAPLEGIA; PEDIGREE; SPASTICITY; SPINOCEREBELLAR ATAXIAS;

HEAT SHOCK PROTEIN; SACS PROTEIN, HUMAN;

ADULT; CONSANGUINITY; HEAT-SHOCK PROTEINS; HOMOZYGOTE; HUMANS; ITALY; MALE; MIDDLE AGED; MUSCLE SPASTICITY; MUTATION, MISSENSE; PARAPLEGIA; PEDIGREE; PERIPHERAL NERVOUS SYSTEM DISEASES; PHENOTYPE; SPINOCEREBELLAR ATAXIAS;

EID: 84885843727     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/ene.12220     Document Type: Article

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