Clinical epidemiologic characterization of orthopaedic and neurological manifestations in children with leukodystrophies

Journal of Pediatric Orthopaedics

Volumn 31, Issue 5, 2011, Pages 587-593

  Holmes Jr , Larry ^a,b   Cornes, Maria Julia ^a   Foldi, Beatrix ^c   Miller, Freeman ^a   Dabney, Kirk ^a  

^a NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^b UNIVERSITY OF DELAWARE   (United States)

^c UNIVERSITY OF TEXAS SCHOOL OF PUBLIC HEALTH   (United States)

Author keywords

clinical epidemiology; leukodystrophy; orthopaedic and neurological manifestation; pediatric

Indexed keywords

ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DATA ANALYSIS; DEMOGRAPHY; FAMILY HISTORY; FEMALE; HAMSTRING; HIP DYSPLASIA; HUMAN; LEUKODYSTROPHY; MALE; MEDICAL PERSONNEL; MEDICAL RECORD REVIEW; METACHROMATIC LEUKODYSTROPHY; NEUROLOGY; ORTHOPEDICS; PELIZAEUS MERZBACHER DISEASE; PES EQUINUS; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SCOLIOSIS; SEIZURE; SPASTICITY; TENDON CONTRACTURE;

CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; FEMALE; HIP DISLOCATION; HUMANS; INCIDENCE; INFANT; INFANT, NEWBORN; LEUKODYSTROPHY, METACHROMATIC; MAGNETIC RESONANCE IMAGING; MALE; PREVALENCE; RETROSPECTIVE STUDIES; SCOLIOSIS; SURVIVAL RATE; UNITED STATES;

EID: 79958788208     PISSN: 02716798     EISSN: 15392570     Source Type: Journal    
DOI: 10.1097/BPO.0b013e3182204930     Document Type: Article

References (16)

1. Schiffmann R, Van der Knaap MS. The latest on leukodystrophies. Curr Opin Neurol. 2004;17:187-192. (Pubitemid 38446462)
2. Lyon G, Fattal-Vlevski A, Kolodyn EH. Leukodystrophies: clinical and genetic aspects. Top Magn Reson Imaging. 2006;17219-241.
3. Krabbe disease. Genetics Home Reference. United States National Library of Medicine. http://ghr.nlm.nih.gov/condition=krabbedisease. (Accessed 02/12/ 2010).
4. Garbern JY. Pelizaeus-Merzbacher disease: genetic and cellular pathogenesis. Cell Mol Life Sci. 2007;64:50-56.
5. Garbern JY. Pelizaeus-Merzbacher disease: pathogenic mechanisms and insights into the roles of proteolipid protein 1 in the nervous system. J Neurol Sci. 2005;228:201-203. (Pubitemid 40202969)
6. Inoue K. PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Neurogenetics. 2005;6:1-6.
7. Cailloux F, Gauthier-Barichard F, Mimault C, et al. Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations: Clinical European Network on Brain Dysmyelinating Disease. Eur J Hum Genet. 2000;8:837-845.
8. Suzuki K. Globoid cell leukodystrophy (Krabbe's disease): update. Child Neurol. 2003;18:595-603. (Pubitemid 37258464)
9. Wenger DA, Rafi MA, Luzi P, et al. Krabbe disease: genetic aspects and progress toward therapy. Mol Genet Metab. 2000;70:1-9. (Pubitemid 30396199)
10. Bitto E, Bingman CA, Wesenberg GE, et al. Structure of aspartoacylase, the brain enzyme impaired in Canavan disease. Proc Natl Acad Sci USA. 2007;104:456-461. (Pubitemid 46123047)
11. Madhavarao CN, Arun P, Moffett JR, et al. Defective N-acetylaspartate catabolism reduces brain acetate levels and myelin lipid synthesis in Canavan's disease. Proc Natl Acad Sci USA. 2005;102:5221-5226.
12. Namboodiri AM, Peethambaran A, Mathew R, et al. Canavan disease and the role of N-acetylaspartate in myelin synthesis. Mol Cell Endocrinol. 2006;252:216-223.
13. Folkerth RD. Abnormalities of developing white matter in lysosomal storage diseases. J Neuropathol Exp Neurol. 1999;58:887-902. (Pubitemid 29441919)
14. Waxman SG. Demyelinating diseases - new pathological insights, new therapeutic targets. N Engl J Med. 1998;338:323-325. (Pubitemid 28065260)
15. Wang P-J, Hwu W-L, Shen Y-Z. Epileptic seizures and electroencephalographic evolution in genetic leukodystrophies. J Clin Neurophysiol. 2001;18:25-32. (Pubitemid 32240438)
16. Giorgi FS, Pizzanelli C, Biagioni F, et al. The role of norepinephrine in epilepsy: from the bench to the bedside. Neurosci Biobehav Rev. 2004;28:507-524. (Pubitemid 39311450)