Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males

Journal of the Neurological Sciences

Volumn 306, Issue 1-2, 2011, Pages 62-65

  Proukakis, Christos ^a   Moore, David ^b   Labrum, Robyn ^a   Wood, Nicholas W ^a   Houlden, Henry ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

Hereditary spastic paraplegia; Neurogenetics; SPAST gene; Spastin; SPG4 gene

Indexed keywords

SPASTIN;

ADULT; CONFERENCE PAPER; FEMALE; GENE MUTATION; GENETIC IDENTIFICATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PERIPHERAL NEUROPATHY; PHENOTYPE; PRIORITY JOURNAL; SEX DIFFERENCE; SEX LINKAGE;

ADENOSINE TRIPHOSPHATASES; DATABASES, FACTUAL; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MALE; MUTATION; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 79958770753     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2011.03.043     Document Type: Conference Paper

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