Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: A novel mutation in the SPG11 gene and further evidence for genetic heterogeneity

European Journal of Neurology

Volumn 16, Issue 1, 2009, Pages 121-126

  Pippucci, T ^a   Panza, E ^a   Pompilii, E ^a   Donadio, V ^b   Borreca, A ^c,d   Babalini, C ^c   Patrono, C ^c   Zuntini, R ^a   Kawarai, T ^e   Bernardi, G ^c,d   Liguori, R ^b   Romeo, G ^a   Montagna, P ^b   Orlacchio, A ^c,d   Seri, M ^a  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b UNIVERSITY OF BOLOGNA   (Italy)

^c IRCCS FONDAZIONE SANTA LUCIA   (Italy)

^d UNIVERSITY OF ROME TOR VERGATA   (Italy)

^e Hyogo Brain and Heart Center   (Japan)

Author keywords

Hereditary spastic paraplegia; Linkage analysis; SPG11; Splice site mutations; Thinning of the corpus callosum

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BABINSKI REFLEX; CHROMOSOME 15Q; CLINICAL ARTICLE; CONTROLLED STUDY; CORPUS CALLOSUM; EXON; GENE; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; HAPLOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HOMOZYGOSITY; HUMAN; MENTAL DEFICIENCY; PRIORITY JOURNAL; RNA SPLICING; SCHOOL CHILD; SIBLING; SPG11 GENE; TREMOR;

ADOLESCENT; ADULT; AGENESIS OF CORPUS CALLOSUM; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MUTATION; NERVOUS SYSTEM MALFORMATIONS; PEDIGREE; PROTEINS; SPASTIC PARAPLEGIA, HEREDITARY; YOUNG ADULT;

EID: 57449117098     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2008.02367.x     Document Type: Article

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