Krabbe leukodystrophy in a selected population with high rate of late onset forms: Longer survival linked to c.121G>A (p.Gly41Ser) mutation

Clinical Genetics

Volumn 80, Issue 5, 2011, Pages 452-458

  Fiumara, A ^a   Barone, R ^a   Arena, A ^a   Filocamo, M ^b   Lissens, W ^c   Pavone, L ^a   Sorge, G ^a  

^a UNIVERSITY OF CATANIA   (Italy)

^b G GASLINI INSTITUTE   (Italy)

^c UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

Author keywords

GALC gene; Globoid cells leukodystrophy; Krabbe disease; Myelin metabolism; White matter disease

Indexed keywords

GLYCINE; SERINE;

ADOLESCENT; ADULT; ARTICLE; ATAXIA; ATTENTION DEFICIT DISORDER; BRAIN ATROPHY; CHILD; CLINICAL ARTICLE; CLINICAL ASSESSMENT; COHORT ANALYSIS; CONSANGUINITY; DEMYELINATING NEUROPATHY; DEPRESSION; DISEASE COURSE; DISEASE SEVERITY; DYSARTHRIA; DYSMETRIA; DYSPHAGIA; FEMALE; FOLLOW UP; GENE MUTATION; GENOTYPE; GEOGRAPHIC DISTRIBUTION; GLOBOID CELL LEUKODYSTROPHY; HEMIPLEGIA; HUMAN; MALE; MOOD DISORDER; MOTOR PERFORMANCE; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; POPULATION RESEARCH; PRIORITY JOURNAL; QUADRIPLEGIA; RETROSPECTIVE STUDY; SCHOOL CHILD; SEIZURE; SENSORIMOTOR NEUROPATHY; SPASTICITY; SPINAL CORD ATROPHY; SURVIVAL TIME; TREMOR; URINE INCONTINENCE; VISUAL IMPAIRMENT;

ADULT; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; CONSANGUINITY; FEMALE; FOLLOW-UP STUDIES; GALACTOSYLCERAMIDASE; HUMANS; INFANT; LEUKODYSTROPHY, GLOBOID CELL; MALE; MUTATION; RETROSPECTIVE STUDIES; SURVIVAL ANALYSIS;

EID: 80053531639     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01572.x     Document Type: Article

References (12)

1. Chen YQ, Rafi MA, de Gala G, Wenger DA. Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy. Hum Mol Genet 1993: 2: 1841-1845.
2. Stenson PD, Mort M, Ball E et al. The human gene mutation database: 2008 update. Genome Med 2009: 1: 13.
3. Zlotogora J, Regev R, Zeigler M, Iancu TC, Bach G. Krabbe disease: increased incidence in a highly inbred community. Am J Med Genet 1985: 21: 765-770.
4. Wenger DA, Suzuki K, Yoshiuyki S et al. Galactosylceramide lipidosis: gloiboid cell leukodystrophy (Krabbe disease). In: Scriver CR, Sly WS, Childs B et al., eds. The metabolic and molecular bases of inherited disease, 8th edn. New York, NY: McGraw-Hill, 2001: 3669-3694.
5. Wenger DA, Rafi MA, Luzi P, Datto J, Costantino-Ceccarini E. Krabbe disease: Genetic aspects and progress toward therapy. Mol Genet Metabol 2000: 70: 1-9.
6. Fiumara A, Pavone L, Siciliano L, Tinè A, Parano E, Innico G. Late-onset globoid cell leukodystrophy: report on 7 new patients. Child's Nerv Syst 1990: 6: 194-197.
7. Harzer K. Prenatal enzymatic diagnosis in 24 pregnancies with risk of Krabbe disease. Clin Chim Acta 1982: 122: 21-28.
8. Lissens W, Arena A, Seneca S et al. A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region. Hum Mutat 2007: 28: 742-748.
9. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA 1999: 81: 249-254.
10. Verdru P, Lammens M, Dom R, Van Elsen A, Carton H. Globoid cell leukodystrophy: A family with both late-infantile and adult type. Neurology 1991: 41: 1382-1384.
11. Wenger DA, Rafi MA, Luzi P. Molecular genetics of Krabbe disease (globoid cell leukodystrophy): Diagnostic and clinical implications. Hum Mutat 1997: 10: 268-279.
12. Duffner PK, Caggana M, Orsini JJ et al. Newborn screening for Krabbe disease: the New York State model. Pediatr Neurol 2009: 40: 245-252; discussion 253.