A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation

Neurology

Volumn 69, Issue 4, 2007, Pages 368-375

  Warnecke, T ^a,b   Duning, T ^a   Schwan, A ^c   Lohmann, H ^a   Epplen, J T ^c   Young, P ^a,b  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^b Interdisciplinary Center for Clinical Research   (Germany)

^c RUHR UNIVERSITY BOCHUM   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

SERINE; THREONINE;

ADULT; AGED; ANALYTIC METHOD; ARTICLE; ATTENTION DISTURBANCE; AUTOSOMAL RECESSIVE DISORDER; BRAIN ATROPHY; CEREBELLUM ATROPHY; CEREBELLUM DISEASE; CLINICAL ARTICLE; CLINICAL EVALUATION; CLINICAL FEATURE; CODON; COGNITIVE DEFECT; CONTROLLED STUDY; DIFFUSION TENSOR IMAGING; DIFFUSION WEIGHTED IMAGING; FEMALE; FRONTAL LOBE; GENE; GENE MUTATION; GENOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HOMOZYGOSITY; HUMAN; MALE; MESENCEPHALON; MOTOR DYSFUNCTION; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; PROGRESSIVE SUPRANUCLEAR PALSY; PYRAMIDAL TRACT; SPG7 GENE; WHITE MATTER;

ADULT; AGED; AMINO ACID SUBSTITUTION; ATROPHY; BRAIN; DIFFUSION MAGNETIC RESONANCE IMAGING; DNA MUTATIONAL ANALYSIS; ELECTRODIAGNOSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOTYPE; HUMANS; MALE; METALLOENDOPEPTIDASES; MIDDLE AGED; MITOCHONDRIA; MUTATION, MISSENSE; NEURAL PATHWAYS; NEUROPSYCHOLOGICAL TESTS; PEDIGREE; PHENOTYPE; SPASTIC PARAPLEGIA, HEREDITARY; TURKEY;

EID: 34547626585     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000266667.91074.fe     Document Type: Article

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