Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA)

Brain

Volumn 132, Issue 3, 2009, Pages 801-809

  Mochel, F ^a,b   Sedel, F ^c   Vanderver, A ^d   Engelke, U F H ^e   Barritault, J ^f   Yang, B Z ^b   Kulkarni, B ^d   Adams, D R ^g   Clot, F ^a   Ding, J H ^b   Kaneski, C R ^b   Verheijen, F W ^h   Smits, B W ^e   Seguin, F ^f   Brice, A ^a,i   Vanier, M T ^a   Huizing, M ^g   Schiffmann, R ^b   Durr, A ^a,i   Wevers, R A ^e  

^a INSERM   (France)

^b BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

^c Hôpital de la Salpêtèrire   (France)

^d CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f UNIVERSITÉ DE POITIERS   (France)

^g NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^h ERASMUS MEDICAL CENTER   (Netherlands)

ⁱ PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

Cerebellar ataxia; Cerebrospinal fluid; Free sialic acid; Neurometabolic disorder; Nuclear magnetic resonance spectroscopy

Indexed keywords

GANGLIOSIDE; SIALIC ACID; TRANSFERRIN;

ADULT; ARTICLE; BEHAVIOR CHANGE; BIOSYNTHESIS; BRAIN REGION; CELL CULTURE; CEREBELLAR ATAXIA; CEREBELLAR ATAXIA WITH FREE SIALIC ACID; CEREBELLUM; CEREBELLUM ATROPHY; CEREBROSPINAL FLUID; CLINICAL ARTICLE; COHORT ANALYSIS; COMPARATIVE STUDY; CONTROL GROUP; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; FIBROBLAST; GENE SEQUENCE; GLYCOSYLATION; HUMAN; HUMAN CELL; IN VITRO STUDY; MALE; MENTAL DETERIORATION; METABOLIC DISORDER; NERVE BIOPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; SIALIC ACID STORAGE DISEASE; TWO DIMENSIONAL GEL ELECTROPHORESIS; WHITE MATTER;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ATROPHY; CELLS, CULTURED; CEREBELLAR ATAXIA; CEREBELLUM; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; FEMALE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MIDDLE AGED; N-ACETYLNEURAMINIC ACID; TRANSFERRIN;

EID: 64849092646     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awn355     Document Type: Article

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