Intellectual and adaptive behaviour functioning in pantothenate kinase-associated neurodegeneration

Journal of Intellectual Disability Research

Volumn 51, Issue 6, 2007, Pages 417-426

  Freeman, Kurt ^a,b,c   Gregory, A ^b   Turner, A ^a,b   Blasco, P ^a,b   Hogarth, P ^b   Hayflick, S ^b  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c NONE   (United States)

Author keywords

Brain iron accumulation; Cognitive functioning; Functional skills; Pantothenate kinase associated neurodegeneration

Indexed keywords

IRON; PANTOTHENATE KINASE;

ADAPTIVE BEHAVIOR; ADOLESCENT; ADULT; AGED; ARTICLE; BRAIN DISEASE; CAREGIVER; CLINICAL ARTICLE; COGNITION; COGNITIVE DEFECT; CORRELATION ANALYSIS; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE SEVERITY; FEMALE; FUNCTIONAL ASSESSMENT; HUMAN; INTELLECTUAL IMPAIRMENT; INTELLIGENCE; MALE; MOLECULAR GENETICS; NERVE DEGENERATION; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PANTOTHENATE KINASE ASSOCIATED NEURODEGENERATION; PHENOTYPE; PSYCHOLOGICAL RATING SCALE; SCHOOL CHILD; WECHSLER INTELLIGENCE SCALE;

ACTIVITIES OF DAILY LIVING; ADAPTATION, PSYCHOLOGICAL; ADOLESCENT; ADULT; AGE OF ONSET; AGED; BRAIN DISEASES; CHILD; COGNITION; FEMALE; GENE EXPRESSION REGULATION, ENZYMOLOGIC; HALLERVORDEN-SPATZ SYNDROME; HUMANS; INTELLIGENCE; INTELLIGENCE TESTS; MALE; MENTAL RETARDATION; MIDDLE AGED; OREGON; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); RARE DISEASES; SEVERITY OF ILLNESS INDEX;

EID: 34248574213     PISSN: 09642633     EISSN: 13652788     Source Type: Journal    
DOI: 10.1111/j.1365-2788.2006.00889.x     Document Type: Article

References (22)

1. Burke R. E., Fahn S., Marsden C. D., Bressman S. B., Moskowitz C. & Friedman J. (1985) Validity and reliability of a rating scale for the primary torsion dystonias. Neurology 35, 73-7.
2. Comi G., Martinelli V., Locatelli T., Leocani L. & Medaglini S. (1998) Neurophysiological and cognitive markers of disease evolution in multiple sclerosis. Multiple Sclerosis 4, 260-5.
3. Cooper G. E., Rizzo M. & Jones R. D. (2000) Adult-onset Hallervorden-Spatz syndrome presenting as cortical dementia. Alzheimer Disease and Associated Disorders 14, 120-6.
4. Cossu G., Maurizio M., Floris G., Hayflick S. & Spizzu A. (2002) Hallervorden Spatz syndrome (pantothenate kinase associated neurodegeneration) in two Sardinian brothers with homozygous mutation in PANK2 gene. Journal of Neurology 249, 1599-600.
5. Dooling E. C., Schoene W. C. & Richardson E. P. Jr (1974) Hallervorden-Spatz syndrome. Archives of Neurology 30, 70-83.
6. Dunn L. M. & Dunn L. M. (1997) Peabody Picture Vocabulary Test, 3rd edn. American Guidance Service, Circle Pines, MN.
7. Guy W. (1976) Clinical global impressions. In: ECDUE Assessment Manual for Psychopharmacology. Revised DHEW Pub. (ADM), pp. 218-222. National Institute for Mental Health, Rockville, MD.
8. Harrison P. L. & Oakland T. (2000) Adaptive Behavior Assessment System Manual. Harcourt, San Antonio, TX.
9. Hayflick S. J. (2002) Hallervorden-Spatz syndrome/ pantothenate kinase-associated neurodegeneration. In: Genetics of Movement Disorder (ed. S. Pulst), pp. 429-41. Academic Press, San Diego, CA.
10. Hayflick S. J., Westaway S. K., Levinson B., Zhou B., Johnson M. A., Ching K. H. & Gitschier J. (2003) Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. New England Journal of Medicine 348, 33-40.
11. Loring D. W., Sethi K. D., Lee G. P. & Meador K. J. (1990) Neuropsychological performance in Hallervorden-Spatz syndrome: A report of two cases. Neuropsychology 4, 191-9.
12. Marelli C., Piacentini S., Garavaglia B., Girotti F. & Albanese A. (2005) Clinical and neuropsychological correlates in two brothers with pantothenate kinase-associated neurodegeneration. Movement Disorders 20, 208-12.
13. McCoy R. N., Blasco P. A., Russman B. S. & O'Malley J. P. (2006) Validation of a care and comfort hypertonicity questionnaire. Developmental Medicine and Child Neurology 48, 181-7.
14. Molinuevo J., Marti M. J., Blesa R. & Tolosa E. (2003) Pure akinesia: An unusual phenotype of Hallervorden-Spatz syndrome. Movement Disorders 18, 1351-3.
15. Roid G. H. & Miller L. J. (1997) Leiter International Performance Scale -Revised. Psychological Assessment Resources, Lutz, FL.
16. Sattler J. M. (2001) Assessment of Children: Cognitive Applications, 4th edn. Jerome M. Sattler Publisher, La Mesa, CA.
17. Sethi K. D., Adams R. J., Loring D. W. & Gammal T. (1988) Hallervorden-Spatz syndrome: Clinical and magnetic resonance imaging correlations. Annals of Neurology 24, 692-4.
18. Sparrow S., Balla D. & Cicchetti D. (1984) Vineland Adaptive Behavior Scales: Interview Edition. AGS, Circle Pines, MN.
19. Suri M. (2001) What's new in neurogenetics? Focus on neurodegenerative disorders. European Journal of Paediatric Neurolology 5, 221-4.
20. Swaiman K. F. (1991) Hallervorden-Spatz syndrome and brain iron metabolism. Archives of Neurology 48, 1285-93.
21. The Psychological Corporation (1999) Wechsler Abbreviated Scale of Intelligence. Harcourt, San Antonio, TX.
22. Zhou B., Westaway S. K., Levinson B., Johnson M., Gitschier J. & Hayflick S. J. (2001) A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nature and Genetics 28, 345-9.