Mutations of the SPG11 gene in patients with autosomal recessive spastic paraparesis and thin corpus callosum

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 79, Issue 5, 2008, Pages 607-609

  Lee, M J ^a   Cheng, T W ^a   Hua, M S ^b   Pan, M K ^a   Wang, J ^a   Stephenson, D A ^c   Yang, C C ^a,d  

^a NATIONAL TAIWAN UNIVERSITY   (Taiwan)

^b NATIONAL TAIWAN UNIVERSITY   (Taiwan)

^c UNIVERSITY OF LONDON   (United Kingdom)

^d NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITIVE DEFECT; CONTROLLED STUDY; CORPUS CALLOSUM; FEMALE; GENE; GENE MUTATION; GENOTYPE; HUMAN; LETTER; MALE; NEUROLOGIC EXAMINATION; PRIORITY JOURNAL; SPASTIC PARAPLEGIA; SPG11 GENE; ADOLESCENT; ATROPHY; BRAIN CORTEX; CHROMOSOME 15; CHROMOSOME DELETION; CONSANGUINITY; GENETICS; HAPLOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; ONSET AGE; PARASITOLOGY; PATHOLOGY; PEDIGREE; PHENOTYPE; RECESSIVE GENE;

MICROSATELLITE DNA; PROTEIN; SPG11 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGE OF ONSET; ATROPHY; CEREBRAL CORTEX; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 15; CONSANGUINITY; CORPUS CALLOSUM; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, RECESSIVE; HAPLOTYPES; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MICROSATELLITE REPEATS; PEDIGREE; PHENOTYPE; PROTEINS; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 42449132896     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2007.136390     Document Type: Letter

References (6)

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4. Martinez MF, Kobayashi H, Pegoraro E, et al. Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15. Neurology 1999;53:50-6.
5. Stevanin G, Santorelli FM, Azzedine H, et al. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet 2007;39:366-72.
6. Del BR, Di FA, Ghezzi S, et al. SPG11: a consistent clinical phenotype in a family with homozygous Spatacsin truncating mutation. Neurogenetics 2007;8:301-5.