A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects

Movement Disorders

Volumn 25, Issue 4, 2010, Pages 413-420

  Warnecke, Tobias ^a   Duning, Thomas ^a   Schirmacher, Anja ^a   Mohammadi, Siawoosh ^a   Schwindt, Wolfram ^a   Lohmann, Hubertus ^a   Dziewas, Rainer ^a   Deppe, Michael ^a   Ringelstein, E Bernd ^a   Young, Peter ^a  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

Author keywords

Diffusion tensor imaging; Hereditary spastic paraplegia; SPG7; Splice site mutation; White matter damage

Indexed keywords

MESSENGER RNA; PROTEIN; SPASTIC PARAPLEGIA 4 PROTEIN; SPASTIC PARAPLEGIA 7 PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BRAIN STEM; CASE REPORT; CLINICAL EVALUATION; CLINICAL FEATURE; CORPUS CALLOSUM; DIFFUSION TENSOR IMAGING; ELECTROMYOGRAPHY; EVOKED MUSCLE RESPONSE; EVOKED SOMATOSENSORY RESPONSE; EXON; FEMALE; GAIT DISORDER; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HYPERREFLEXIA; LOSS OF FUNCTION MUTATION; MOTHER; MUTATIONAL ANALYSIS; NERVE CONDUCTION; NEUROIMAGING; NEUROLOGIC DISEASE; NEUROPSYCHOLOGICAL TEST; NEUROPSYCHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; PTOSIS; PYRAMIDAL TRACT; WHITE MATTER;

ADULT; AMINO ACID SUBSTITUTION; ATROPHY; BRAIN; DIFFUSION MAGNETIC RESONANCE IMAGING; DNA MUTATIONAL ANALYSIS; DNA, RECOMBINANT; ELECTRODIAGNOSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENOTYPE; HUMANS; METALLOENDOPEPTIDASES; MIDDLE AGED; MUSCLE FIBERS, SKELETAL; NEURAL PATHWAYS; NEUROPSYCHOLOGICAL TESTS; PHENOTYPE; POINT MUTATION; SPASTIC PARAPLEGIA, HEREDITARY; TWINS, DIZYGOTIC; TWINS, MONOZYGOTIC;

EID: 77949523055     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.22949     Document Type: Article

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