A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy

Journal of Neurology

Volumn 255, Issue 7, 2008, Pages 1090-1092

  Tessa, A ^a   Silvestri, G ^b,g   De Leva, M F ^c   Modoni, A ^b   Denora, P S ^a   Masciullo, M ^b   Dotti, M T ^d   Casali, C ^e   Melone, M A B ^f   Federico, A ^d   Filla, A ^c   Santorelli, F M ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b CATHOLIC UNIVERSITY   (Italy)

^c UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^d UNIVERSITY OF SIENA   (Italy)

^e SAPIENZA UNIVERSITY OF ROME   (Italy)

^f SECOND UNIVERSITY OF NAPLES   (Italy)

^g IRCCS FONDAZIONE DON CARLO GNOCCHI   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

KINESIN HEAVY CHAIN; MOLECULAR MOTOR; UNCLASSIFIED DRUG;

BABINSKI REFLEX; CHROMATOGRAPHY; COGNITIVE DEFECT; DISABILITY; DISEASE DURATION; ELECTROMYOGRAPHY; GAIT DISORDER; GENE; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INCIDENCE; KIF5A GENE; LETTER; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUSCLE ATROPHY; NERVE CONDUCTION; NEUROPATHY; ONSET AGE; PEDIGREE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SENSORY DYSFUNCTION; SPASTIC PARAPLEGIA; SPG10 GENE;

ADOLESCENT; ADULT; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HUMANS; KINESIN; MALE; MUTATION, MISSENSE; PARAPLEGIA; PERIPHERAL NERVOUS SYSTEM DISEASES;

EID: 50049091987     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-008-0840-8     Document Type: Letter

References (11)

1. Fink 2006 Curr Neurol Neurosci Rep 6 65
2. Depienne 2006 J Med Genet 44 281
3. Patrono 2005 Hum Mutat 25 506
4. Namekawa 2006 Neurology 66 112
5. Klebe 2007 Neurogenetics 8 155
6. Fichera 2004 Neurology 63 1108
7. Reid 2002 Am J Hum Genet 71 1189
8. Blair 2006 Neurogenetics 7 47
9. Lo Giudice 2006 Arch Neurol 63 284
10. Goldstein 2001 Proc NatlAcad Sci USA 98 6999
11. Xia 2003 J Cell Biol 161 55