Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis

Journal of Neurology

Volumn 261, Issue 2, 2014, Pages 373-381

  Citterio, Andrea ^a   Arnoldi, Alessia ^a   Panzeri, Elena ^a   D'Angelo, Maria Grazia ^a   Filosto, Massimiliano ^b   Dilena, Robertino ^c   Arrigoni, Filippo ^a   Castelli, Marianna ^a   Maghini, Cristina ^a   Germiniasi, Chiara ^a   Menni, Francesca ^d   Martinuzzi, Andrea ^a   Bresolin, Nereo ^a,d   Bassi, Maria Teresa ^a  

^a SCIENTIFIC INSTITUTE   (Italy)

^b SPEDALI CIVILI   (Italy)

^c FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^d UNIVERSITY OF MILAN   (Italy)

Author keywords

Amplicon based targeted resequencing; CYP2U1; DDHD2; GBA2; Spastic paraparesis

Indexed keywords

ARGININE; ASPARTIC ACID; GLYCINE; HISTIDINE;

AMPLICON; ARTICLE; CEREBELLAR ATAXIA; CHILD; CORPUS CALLOSUM; CYP2U1 GENE; DDHD2 GENE; FAMILIAL DISEASE; GBA2 GENE; GENE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HOMOZYGOSITY; HUMAN; INFANT; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SYMPTOMATOLOGY;

ADOLESCENT; AGE OF ONSET; AMINO ACID SEQUENCE; BETA-GLUCOSIDASE; BRAIN; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; CYTOCHROME P-450 ENZYME SYSTEM; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENETIC TESTING; HUMANS; INFANT; ITALY; MAGNETIC RESONANCE IMAGING; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHOSPHOLIPASES; SPASTIC PARAPLEGIA, HEREDITARY; UNITED STATES; YOUNG ADULT;

EID: 84899067023     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-013-7206-6     Document Type: Article

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