Novel mutations c.[5121_5122insAG]+[6859C>T] of the SPG11 gene associated with cerebellum hypometabolism in a Chinese case of hereditary spastic paraplegia with thin corpus callosum

Parkinsonism and Related Disorders

Volumn 20, Issue 2, 2014, Pages 256-259

  Ma, Jing ^a   Xiong, Likuan ^a   Chang, Yu ^b   Jing, Xiangyi ^b   Huang, Weijun ^b   Hu, Bin ^b   Shi, Xinchong ^c   Xu, Weiping ^d   Wang, Yiming ^b   Li, Xunhua ^e  

^a Birth Defects Prevention Research and Transformation Team   (China)

^b SUN YAT SEN UNIVERSITY   (China)

^c SUN YAT SEN UNIVERSITY   (China)

^d GUANGDONG PROVINCIAL PEOPLE'S HOSPITAL   (China)

^e THE FIRST AFFILIATED HOSPITAL OF SUN YAT SEN UNIVERSITY   (China)

Author keywords

Cerebella hypometabolism; Hereditary spastic paraplegia; Mutation; SPG11; Thin corpus callosum

Indexed keywords

FLUORODEOXYGLUCOSE F 18;

ADOLESCENT; AUTOSOMAL RECESSIVE DISORDER; BRAIN RADIOGRAPHY; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CEREBELLUM DISEASE; CEREBELLUM HYPOMETABOLISM; CEREBELLUM HYPOPLASIA; CHINESE; CLINICAL FEATURE; COMPUTER ASSISTED EMISSION TOMOGRAPHY; DNA SEQUENCE; EVOKED MUSCLE RESPONSE; FRAMESHIFT MUTATION; GENE; GENE EXPRESSION; GENE IDENTIFICATION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC VARIABILITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HUMAN; HYPOPLASIA; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; LETTER; MALE; MOTOR UNIT POTENTIAL; MUTATIONAL ANALYSIS; NERVE CONDUCTION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RESIDUE ANALYSIS; SANGER SEQUENCING; SEQUENCE ANALYSIS; SPASTICITY; SPG11 GENE; THIN CORPUS CALLOSUM; TIBIALIS ANTERIOR MUSCLE; WECHSLER INTELLIGENCE SCALE; WHITE MATTER HYPOGENESIS;

CEREBELLA HYPOMETABOLISM; HEREDITARY SPASTIC PARAPLEGIA; MUTATION; SPG11; THIN CORPUS CALLOSUM;

ADOLESCENT; AGE OF ONSET; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CEREBELLUM; CHILD; CHILD, PRESCHOOL; CORPUS CALLOSUM; DNA MUTATIONAL ANALYSIS; GENES, RECESSIVE; GENOTYPE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MULTIMODAL IMAGING; MUTATION; PEDIGREE; POSITRON-EMISSION TOMOGRAPHY; PROTEINS; SPASTIC PARAPLEGIA, HEREDITARY; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84893711112     PISSN: 13538020     EISSN: 18735126     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2013.11.004     Document Type: Letter

References (5)

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