SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Volumn 150, Issue 7, 2009, Pages 984-992

  Örlén, Hanna ^a   Melberg, Atle ^b   Raininko, Raili ^b   Kumlien, Eva ^b   Entesarian, Miriam ^a   Söderberg, Per ^c   Påhlman, Magnus ^d   Darin, Niklas ^d   Kyllerman, Mårten ^d   Holmberg, Eva ^d   Engler, Henry ^b,e,f   Eriksson, Urban ^b   Dahl, Niklas ^a  

^a UPPSALA UNIVERSITY   (Sweden)

^b UPPSALA UNIVERSITY HOSPITAL   (Sweden)

^c Västerås Hospital   (Sweden)

^d QUEEN SILVIA CHILDREN'S HOSPITAL   (Sweden)

^e University Hospital   (Uruguay)

^f Faculty of Sciences   (Uruguay)

Author keywords

Corpus callosum; Hereditary spastic paraplegia; Kjellin syndrome; Spatacsin; SPG11

Indexed keywords

FLUORODEOXYGLUCOSE F 18; GLUCOSE; N METHYL DEUTERODEPRENYL CARBON 11; TRACER; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; ASTROCYTOSIS; CELL LOSS; CONTROLLED STUDY; CORPUS CALLOSUM; FEMALE; GENE; GENE MUTATION; GENETIC SCREENING; GLUCOSE TRANSPORT; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; KJELLIN SYNDROME; MALE; MENTAL DISEASE; NERVE CELL; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOLOGY; PHENOTYPE; PONS; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; RETINA DEGENERATION; SENSORIMOTOR CORTEX; SPASTIC PARAPLEGIA; SPG11 GENE; THALAMUS; WHITE MATTER;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CORPUS CALLOSUM; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION; OPHTHALMOLOGY; PEDIGREE; POSITRON-EMISSION TOMOGRAPHY; PROTEINS; RETINAL DEGENERATION; SPASTIC PARAPLEGIA, HEREDITARY; SYNDROME;

EID: 70349339197     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.30928     Document Type: Article

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