Hereditary spastic paraplegia:A novel mutation and expansion of the phenotype variability in SPG10

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 86, Issue 6, 2015, Pages 702-704

  Carosi, Laura ^a,b   Giudice, Temistocle Lo ^a,b   Lullo, Martina Di ^a   Lombardi, Federica ^a   Babalini, Carla ^a   Gaudiello, Fabrizio ^a   Marfia, Girolama Alessandra ^b   Massa, Roberto ^a,b   Kawarai, Toshitaka ^c   Orlacchio, Antonio ^a,b  

^a IRCCS FONDAZIONE SANTA LUCIA   (Italy)

^b UNIVERSITY OF ROME TOR VERGATA   (Italy)

^c UNIVERSITY OF TOKUSHIMA   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; TRYPTOPHAN; KIF5A PROTEIN, HUMAN; KINESIN;

ADULT; AGED; AMINO ACID SUBSTITUTION; BABINSKI REFLEX; CODON; CONTROLLED STUDY; DISEASE COURSE; DISEASE DURATION; DNA EXTRACTION; DUPUYTREN CONTRACTURE; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC VARIABILITY; HUMAN; HYPERREFLEXIA; KIF5A GENE; LEG VARICOSIS; LETTER; LIMB WEAKNESS; LIMIT OF DETECTION; MAJOR CLINICAL STUDY; MALE; MOTOR DYSFUNCTION; ONSET AGE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SPASTIC PARAPLEGIA; SPASTICITY; SPG10 GENE; URINARY URGENCY; VARICOSIS; COGNITION DISORDERS; DISABILITY; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; MIDDLE AGED; MUTATION; PATHOPHYSIOLOGY; YOUNG ADULT;

ADULT; AGE OF ONSET; AGED; COGNITION DISORDERS; DISABILITY EVALUATION; DISEASE PROGRESSION; FEMALE; HUMANS; KINESIN; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; SPASTIC PARAPLEGIA, HEREDITARY; YOUNG ADULT;

EID: 84929587302     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2014-308625     Document Type: Letter

References (9)

1. Lo Giudice T, Lombardi F, Santorelli FM, et al. Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms. Exp Neurol 2014;261C:518-39.
2. Schüle R, Holland-Letz T, Klimpe S. The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity. Neurology 2006;67:430-4.
3. Carlesimo GA, Caltagirone C, Gainotti G. The mental deterioration battery: normative data, diagnostic reliability and qualitative analyses of cognitive impairment. The group for the standardization of the mental deterioration battery. Eur Neurol 1996;36:378-84.
4. Meissner MH, Gloviczki P, Bergan J, et al. Primary chronic venous disorders. J Vasc Surg 2007;46:54S-67S.
5. Hindocha S, John S, Stanley JK, et al. The heritability of Dupuytren's disease: familial aggregation and its clinical significance. J Hand Surg Am 2006;31:204-10.
6. Bayat V, Jaiswal M, Bellen HJ. The BMP signaling pathway at the Drosophila neuromuscular junction and its links to neurodegenerative diseases. Curr Opin Neurobiol 2011;21:182-8.
7. Firth HV, Richards SM, Bevan AP, et al. DECIPHER: database of chromosomal imbalance and phenotype in humans using ensembl resources. Am J Hum Genet 2009;84:524-33.
8. Su YA, Hutter CM, Trent JM, et al. Complete sequence analysis of a gene (OS-9) ubiquitously expressed in human tissues and amplified in sarcomas. Mol Carcinog 1996;15:270-5.
9. Krause C, Kloen P, Ten Dijke P. Elevated transforming growth factor β and mitogen-activated protein kinase pathways mediate fibrotic traits of Dupuytren's disease fibroblasts. Fibrogenesis Tissue Repair 2011;4:14.