메뉴 건너뛰기




Volumn 116, Issue 1-2, 2015, Pages 61-68

Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment

Author keywords

Genotypes; Mucopolysaccharidosis Type I; Neurocognition; Neuroimaging

Indexed keywords

ADOLESCENT; ADULT; AGE; ARTICLE; BRAIN SIZE; CHILD; COGNITION; COGNITIVE DEFECT; COHORT ANALYSIS; COMORBIDITY; CONTROLLED STUDY; CORRELATION ANALYSIS; DISEASE COURSE; DISEASE SEVERITY; ENZYME REPLACEMENT; FEMALE; GENOTYPE; GRAY MATTER; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; HURLER SYNDROME; INFANT; INTELLIGENCE QUOTIENT; LONGITUDINAL STUDY; MAJOR CLINICAL STUDY; MALE; MEDICAL HISTORY; MULTICENTER STUDY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; TREATMENT OUTCOME; WHITE MATTER; ANATOMY AND HISTOLOGY; CLINICAL TRIAL; COGNITION DISORDERS; MUCOPOLYSACCHARIDOSIS I; OUTCOME ASSESSMENT; PATHOLOGY; PATHOPHYSIOLOGY; YOUNG ADULT;

EID: 84940893067     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2015.06.002     Document Type: Article
Times cited : (57)

References (48)
  • 1
    • 59449100963 scopus 로고    scopus 로고
    • Mucopolysaccharidosis I: management and treatment
    • The International Consensus Panel on the Management and Treatment of Mucopolysaccharidosis I
    • Muenzer J., Wraith J.E., Clarke L.A. Mucopolysaccharidosis I: management and treatment. Pediatrics 2009, 123:19-29. The International Consensus Panel on the Management and Treatment of Mucopolysaccharidosis I.
    • (2009) Pediatrics , vol.123 , pp. 19-29
    • Muenzer, J.1    Wraith, J.E.2    Clarke, L.A.3
  • 2
    • 77951072800 scopus 로고    scopus 로고
    • Current international perspectives on hematopoietic stem cell transplantation for inherited metabolic disorders
    • Boelens J., Prasad V., Tolar J., Wynn R., Peters C. Current international perspectives on hematopoietic stem cell transplantation for inherited metabolic disorders. Pediatr. Clin. N. Am. 2010, 57:123-145.
    • (2010) Pediatr. Clin. N. Am. , vol.57 , pp. 123-145
    • Boelens, J.1    Prasad, V.2    Tolar, J.3    Wynn, R.4    Peters, C.5
  • 3
    • 22944466392 scopus 로고    scopus 로고
    • Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I
    • Vijay S., Wraith J.E. Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I. Acta Paediatr. 2005, 94:872-877.
    • (2005) Acta Paediatr. , vol.94 , pp. 872-877
    • Vijay, S.1    Wraith, J.E.2
  • 4
    • 84893672647 scopus 로고    scopus 로고
    • Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the alpha-l-iduronidase gene in Hurler-Scheie syndrome
    • Ahmed A., Whitley C.B., Cooksley R., et al. Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the alpha-l-iduronidase gene in Hurler-Scheie syndrome. Mol. Genet. Metab. 2014, 111:123-127.
    • (2014) Mol. Genet. Metab. , vol.111 , pp. 123-127
    • Ahmed, A.1    Whitley, C.B.2    Cooksley, R.3
  • 5
    • 50149108962 scopus 로고    scopus 로고
    • Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed
    • Al Sawaf S., Mayatepek E., Hoffmann B. Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed. J. Inherit. Metab. Dis. 2008, 31(4):473-480.
    • (2008) J. Inherit. Metab. Dis. , vol.31 , Issue.4 , pp. 473-480
    • Al Sawaf, S.1    Mayatepek, E.2    Hoffmann, B.3
  • 6
    • 33747166925 scopus 로고    scopus 로고
    • Metabolic and neurodegenerative disorders of childhood
    • Guilford Press, New York, NY, G. Taylor, D. Ris, K. Yeates (Eds.)
    • Shapiro E., Balthazor M. Metabolic and neurodegenerative disorders of childhood. Pediatric Neuropsychology: Research, Theory and Practice 1999, 171-205. Guilford Press, New York, NY. G. Taylor, D. Ris, K. Yeates (Eds.).
    • (1999) Pediatric Neuropsychology: Research, Theory and Practice , pp. 171-205
    • Shapiro, E.1    Balthazor, M.2
  • 7
    • 0029146242 scopus 로고
    • Neuropsychological outcomes of several storage diseases with and without bone marrow transplantation
    • Shapiro E.G., Lockman L.A., Balthazor M., Krivit W. Neuropsychological outcomes of several storage diseases with and without bone marrow transplantation. J. Inherit. Metab. Dis. 1995, 18:413-429.
    • (1995) J. Inherit. Metab. Dis. , vol.18 , pp. 413-429
    • Shapiro, E.G.1    Lockman, L.A.2    Balthazor, M.3    Krivit, W.4
  • 8
    • 84941424766 scopus 로고    scopus 로고
    • Methods in neuropsychological assessment in children with neurodegenerative disease: Sanfilippo syndrome
    • Delaney K., Rudser K., Yund B., Whitley C., Haslett P., Shapiro E. Methods in neuropsychological assessment in children with neurodegenerative disease: Sanfilippo syndrome. J. Inherit. Metab. Dis. Rep. 2013, 10.1007/8904_2013_269.
    • (2013) J. Inherit. Metab. Dis. Rep.
    • Delaney, K.1    Rudser, K.2    Yund, B.3    Whitley, C.4    Haslett, P.5    Shapiro, E.6
  • 9
    • 77956317772 scopus 로고    scopus 로고
    • Structural MRI of pediatric brain development: what have we learned and where are we going?
    • Giedd J.N., Rapoport J.L. Structural MRI of pediatric brain development: what have we learned and where are we going?. Neuron 2010, 67(5):728-734.
    • (2010) Neuron , vol.67 , Issue.5 , pp. 728-734
    • Giedd, J.N.1    Rapoport, J.L.2
  • 10
    • 0034306447 scopus 로고    scopus 로고
    • Structural and functional brain development and its relation to cognitive development
    • Casey B.J., Giedd J.N., Thomas K.M. Structural and functional brain development and its relation to cognitive development. Biol. Psychol. 2000, 54(1):241-257.
    • (2000) Biol. Psychol. , vol.54 , Issue.1 , pp. 241-257
    • Casey, B.J.1    Giedd, J.N.2    Thomas, K.M.3
  • 16
    • 84961864675 scopus 로고    scopus 로고
    • MPS (mucopolysaccharidosis) specific physical symptom score-development, reliability and validity
    • Ahmed A., Kunin-Batson A., Redtree E., Whitley C.B., Shapiro E. MPS (mucopolysaccharidosis) specific physical symptom score-development, reliability and validity. Mol. Genet. Metab. 2014, 111(2):S17-S18.
    • (2014) Mol. Genet. Metab. , vol.111 , Issue.2 , pp. S17-S18
    • Ahmed, A.1    Kunin-Batson, A.2    Redtree, E.3    Whitley, C.B.4    Shapiro, E.5
  • 17
    • 84862997809 scopus 로고    scopus 로고
    • FreeSurfer
    • Fischl B. FreeSurfer. Neuroimage 2012, 62(2):774-781.
    • (2012) Neuroimage , vol.62 , Issue.2 , pp. 774-781
    • Fischl, B.1
  • 18
    • 84863304598 scopus 로고    scopus 로고
    • R Foundation for Statistical Computing, Vienna, Austria
    • R Core Team R: A language and environment for statistical computing 2012, R Foundation for Statistical Computing, Vienna, Austria, (URL http://www.R-project.org/).
    • (2012) R: A language and environment for statistical computing
  • 19
  • 20
    • 10744223978 scopus 로고    scopus 로고
    • Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources
    • Souillet G., Guffon N., Maire I., et al. Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources. Bone Marrow Transplant. 2003, 31:1105-1117.
    • (2003) Bone Marrow Transplant. , vol.31 , pp. 1105-1117
    • Souillet, G.1    Guffon, N.2    Maire, I.3
  • 21
    • 9344245169 scopus 로고    scopus 로고
    • Outcome of unrelated donor bone marrow transplantation in forty children with Hurler syndrome
    • Peters C., Balthazor M., Shapiro E., et al. Outcome of unrelated donor bone marrow transplantation in forty children with Hurler syndrome. Blood 1996, 87:4894-4902.
    • (1996) Blood , vol.87 , pp. 4894-4902
    • Peters, C.1    Balthazor, M.2    Shapiro, E.3
  • 22
    • 0032055564 scopus 로고    scopus 로고
    • Hurler Syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children
    • Peters C., Shapiro E., Anderson J., et al. Hurler Syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children. Blood 1998, 91:2601-2608.
    • (1998) Blood , vol.91 , pp. 2601-2608
    • Peters, C.1    Shapiro, E.2    Anderson, J.3
  • 23
    • 41049098690 scopus 로고    scopus 로고
    • Methods for assessing neurodevelopment in lysosomal storage diseases and related disorders: a multidisciplinary perspective
    • Martin H.R., Poe M.D., Reinhartsen D., et al. Methods for assessing neurodevelopment in lysosomal storage diseases and related disorders: a multidisciplinary perspective. Acta Pediatr. 2008, 97:69-75.
    • (2008) Acta Pediatr. , vol.97 , pp. 69-75
    • Martin, H.R.1    Poe, M.D.2    Reinhartsen, D.3
  • 24
    • 34548229996 scopus 로고    scopus 로고
    • Developmental outcome in five children with Hurler syndrome after stem cell transplantation: a pilot study
    • Lücke T., Das A.M., Hartmann H., et al. Developmental outcome in five children with Hurler syndrome after stem cell transplantation: a pilot study. Dev. Med. Child Neurol. 2007, 49(9):693-696.
    • (2007) Dev. Med. Child Neurol. , vol.49 , Issue.9 , pp. 693-696
    • Lücke, T.1    Das, A.M.2    Hartmann, H.3
  • 25
    • 63849138912 scopus 로고    scopus 로고
    • Outcome in six children with mucopolysaccharidosis type IH, Hurler syndrome, after haematopoietic stem cell transplantation (HSCT)
    • Malm G., Gustafsson B., Berglund G., et al. Outcome in six children with mucopolysaccharidosis type IH, Hurler syndrome, after haematopoietic stem cell transplantation (HSCT). Acta Paediatr. 2008, 97(8):1108-1112.
    • (2008) Acta Paediatr. , vol.97 , Issue.8 , pp. 1108-1112
    • Malm, G.1    Gustafsson, B.2    Berglund, G.3
  • 26
    • 84872350131 scopus 로고    scopus 로고
    • Enzyme replacement is associated with better cognitive outcomes after transplant in Hurler syndrome
    • Eisengart J.B., Rudser K.D., Tolar J., et al. Enzyme replacement is associated with better cognitive outcomes after transplant in Hurler syndrome. J. Pediatr. 2013, 162(2):375-380.
    • (2013) J. Pediatr. , vol.162 , Issue.2 , pp. 375-380
    • Eisengart, J.B.1    Rudser, K.D.2    Tolar, J.3
  • 27
    • 57249094012 scopus 로고    scopus 로고
    • Use of enzyme replacement therapy (Laronidase) before hematopoietic stem cell transplantation for mucopolysaccharidosis I: experience in 18 patients
    • Wynn R., Mercer J., Page J. Use of enzyme replacement therapy (Laronidase) before hematopoietic stem cell transplantation for mucopolysaccharidosis I: experience in 18 patients. J. Pediatr. 2009, 154:135-139.
    • (2009) J. Pediatr. , vol.154 , pp. 135-139
    • Wynn, R.1    Mercer, J.2    Page, J.3
  • 28
    • 41549136110 scopus 로고    scopus 로고
    • Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome
    • Tolar J., Grewal S., Bjoraker K., et al. Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome. Bone Marrow Transplant. 2007, 41:531-535.
    • (2007) Bone Marrow Transplant. , vol.41 , pp. 531-535
    • Tolar, J.1    Grewal, S.2    Bjoraker, K.3
  • 29
    • 0041524060 scopus 로고    scopus 로고
    • Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature
    • Terlato N.J., Cox G.F. Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature. Genet. Med. 2003, 5(4):286-294.
    • (2003) Genet. Med. , vol.5 , Issue.4 , pp. 286-294
    • Terlato, N.J.1    Cox, G.F.2
  • 30
    • 84912535118 scopus 로고    scopus 로고
    • Early treatment is associated with improved cognition in Hurler syndrome
    • Poe M.D., Chagnon S.L., Escolar M.L. Early treatment is associated with improved cognition in Hurler syndrome. Ann. Neurol. 2014, 76(5):747-753.
    • (2014) Ann. Neurol. , vol.76 , Issue.5 , pp. 747-753
    • Poe, M.D.1    Chagnon, S.L.2    Escolar, M.L.3
  • 31
    • 0029114944 scopus 로고
    • The future for treatment by bone marrow transplantation for adrenoleukodystrophy, metachromatic leukodystrophy, globoid cell leukodystrophy and Hurler syndrome
    • Krivit W., Lockman L.A., Watkins P.A., Hirsch J., Shapiro E.G. The future for treatment by bone marrow transplantation for adrenoleukodystrophy, metachromatic leukodystrophy, globoid cell leukodystrophy and Hurler syndrome. J. Inherit. Metab. Dis. 1995, 18(4):398-412.
    • (1995) J. Inherit. Metab. Dis. , vol.18 , Issue.4 , pp. 398-412
    • Krivit, W.1    Lockman, L.A.2    Watkins, P.A.3    Hirsch, J.4    Shapiro, E.G.5
  • 32
    • 0347419495 scopus 로고    scopus 로고
    • Musculoskeletal manifestations of Hurler syndrome: long-term follow-up after bone marrow transplantation
    • Weisstein J.S., Delgado E., Steinbach L.S., et al. Musculoskeletal manifestations of Hurler syndrome: long-term follow-up after bone marrow transplantation. J. Pediatr. Orthop. 2004, 24:97-101.
    • (2004) J. Pediatr. Orthop. , vol.24 , pp. 97-101
    • Weisstein, J.S.1    Delgado, E.2    Steinbach, L.S.3
  • 33
    • 0033949283 scopus 로고    scopus 로고
    • Correction of odontoid dysplasia following bone-marrow transplantation and engraftment (in Hurler syndrome MPS 1H)
    • Hite S.H., Peters C., Krivit W. Correction of odontoid dysplasia following bone-marrow transplantation and engraftment (in Hurler syndrome MPS 1H). Pediatr. Radiol. 2000, 30:464-470.
    • (2000) Pediatr. Radiol. , vol.30 , pp. 464-470
    • Hite, S.H.1    Peters, C.2    Krivit, W.3
  • 34
    • 77956063405 scopus 로고    scopus 로고
    • Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I
    • Thomas J.A., Beck M., Clarke J.T., Cox G.F. Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I. J. Inherit. Metab. Dis. 2010, 33(4):421-427.
    • (2010) J. Inherit. Metab. Dis. , vol.33 , Issue.4 , pp. 421-427
    • Thomas, J.A.1    Beck, M.2    Clarke, J.T.3    Cox, G.F.4
  • 35
    • 84866144416 scopus 로고    scopus 로고
    • An exploratory study of brain function and structure in mucopolysaccharidosis type I: long term observations following hematopoietic cell transplantation (HCT)
    • Shapiro E., Guler O.E., Rudser K. An exploratory study of brain function and structure in mucopolysaccharidosis type I: long term observations following hematopoietic cell transplantation (HCT). Mol. Genet. Metab. 2012, 107(1):116-121.
    • (2012) Mol. Genet. Metab. , vol.107 , Issue.1 , pp. 116-121
    • Shapiro, E.1    Guler, O.E.2    Rudser, K.3
  • 36
    • 34548203201 scopus 로고    scopus 로고
    • Brain MRI in mucopolysaccharidosis effect of aging and correlation with biochemical findings
    • Vedolin L.I., Schwartz V.D., Komlos M. Brain MRI in mucopolysaccharidosis effect of aging and correlation with biochemical findings. Neurology 2007, 69(9):917-924.
    • (2007) Neurology , vol.69 , Issue.9 , pp. 917-924
    • Vedolin, L.I.1    Schwartz, V.D.2    Komlos, M.3
  • 37
    • 4444287601 scopus 로고    scopus 로고
    • Brain MRI findings in patients with mucopolysaccharidosis types I and II and mild clinical presentation
    • Matheus G.M., Castillo J.K., Smith, et al. Brain MRI findings in patients with mucopolysaccharidosis types I and II and mild clinical presentation. Neuroradiology 2004, 46:666-672.
    • (2004) Neuroradiology , vol.46 , pp. 666-672
    • Matheus, G.M.1    Castillo, J.K.2    Smith, J.K.3
  • 38
    • 84877849775 scopus 로고    scopus 로고
    • Features of brain MRI in dogs with treated and untreated mucopolysaccharidosis type I
    • Vite C., Nestrasil I., Mlikotic A., et al. Features of brain MRI in dogs with treated and untreated mucopolysaccharidosis type I. Comp. Med. 2013, 63:163-173.
    • (2013) Comp. Med. , vol.63 , pp. 163-173
    • Vite, C.1    Nestrasil, I.2    Mlikotic, A.3
  • 39
    • 34047267343 scopus 로고    scopus 로고
    • Intrathecal enzyme replacement therapy: successful treatment of brain disease via the cerebrospinal fluid
    • Dickson P., McEntee M., Vogler C., et al. Intrathecal enzyme replacement therapy: successful treatment of brain disease via the cerebrospinal fluid. Mol. Genet. Metab. 2007, 91:61-68.
    • (2007) Mol. Genet. Metab. , vol.91 , pp. 61-68
    • Dickson, P.1    McEntee, M.2    Vogler, C.3
  • 41
    • 41549155055 scopus 로고    scopus 로고
    • White versus gray matter function as seen on neuropsychological testing following bone marrow transplant for acute leukemia in childhood
    • Anderson F.S., Kunin-Batson A.S., Perkins J.L., et al. White versus gray matter function as seen on neuropsychological testing following bone marrow transplant for acute leukemia in childhood. Neuropsychiatr. Dis. Treat. 2008, 4(1):283-288.
    • (2008) Neuropsychiatr. Dis. Treat. , vol.4 , Issue.1 , pp. 283-288
    • Anderson, F.S.1    Kunin-Batson, A.S.2    Perkins, J.L.3
  • 42
    • 59449089368 scopus 로고    scopus 로고
    • Neurocognitive late effects of chemotherapy in children: the past 10years of research on brain structure and function
    • Anderson F.S., Kunin-Batson A.S. Neurocognitive late effects of chemotherapy in children: the past 10years of research on brain structure and function. Pediatr. Blood Cancer 2009, 52:159-164.
    • (2009) Pediatr. Blood Cancer , vol.52 , pp. 159-164
    • Anderson, F.S.1    Kunin-Batson, A.S.2
  • 43
    • 32544461639 scopus 로고    scopus 로고
    • Smaller white-matter volumes are associated with larger deficits in attention and learning among long-term survivors of acute lymphoblastic leukemia
    • Reddick W.E., Shan Z.Y., Glass J.O., et al. Smaller white-matter volumes are associated with larger deficits in attention and learning among long-term survivors of acute lymphoblastic leukemia. Cancer 2006, 106:941-949.
    • (2006) Cancer , vol.106 , pp. 941-949
    • Reddick, W.E.1    Shan, Z.Y.2    Glass, J.O.3
  • 44
    • 84873655862 scopus 로고    scopus 로고
    • Brain and spinal MR imaging findings in mucopolysaccharidoses: a review
    • Zafeiriou D.I., Batzios S.P. Brain and spinal MR imaging findings in mucopolysaccharidoses: a review. Am. J. Neuroradiol. 2013, 34(1):5-13.
    • (2013) Am. J. Neuroradiol. , vol.34 , Issue.1 , pp. 5-13
    • Zafeiriou, D.I.1    Batzios, S.P.2
  • 45
    • 2942672495 scopus 로고    scopus 로고
    • Secondary accumulation of gangliosides in lysosomal storage disorders
    • Walkley S.U. Secondary accumulation of gangliosides in lysosomal storage disorders. Semin. Cell Dev. Biol. 2004, 15(4):433-444.
    • (2004) Semin. Cell Dev. Biol. , vol.15 , Issue.4 , pp. 433-444
    • Walkley, S.U.1
  • 46
    • 0037452606 scopus 로고    scopus 로고
    • Activated microglia in cortex of mouse models of mucopolysaccharidoses I and IIIB
    • Ohmi K., Greenberg D.S., Rajavel K.S., et al. Activated microglia in cortex of mouse models of mucopolysaccharidoses I and IIIB. Proc. Natl. Acad. Sci. 2003, 100:1902-1907.
    • (2003) Proc. Natl. Acad. Sci. , vol.100 , pp. 1902-1907
    • Ohmi, K.1    Greenberg, D.S.2    Rajavel, K.S.3
  • 47
    • 35748932947 scopus 로고    scopus 로고
    • Mutational and oxidative stress analysis in patients with mucopolysaccharidosis type I undergoing enzyme replacement therapy
    • Pereira V.G., Martins A.M., Micheletti C., D'Almeida V. Mutational and oxidative stress analysis in patients with mucopolysaccharidosis type I undergoing enzyme replacement therapy. Clin. Chim. Acta 2008, 387:75-79.
    • (2008) Clin. Chim. Acta , vol.387 , pp. 75-79
    • Pereira, V.G.1    Martins, A.M.2    Micheletti, C.3    D'Almeida, V.4
  • 48
    • 84863459850 scopus 로고    scopus 로고
    • Mucopolysaccharidosis type I: current knowledge on its pathophysiological mechanisms
    • Campos D., Monaga M. Mucopolysaccharidosis type I: current knowledge on its pathophysiological mechanisms. Metab. Brain Dis. 2012, 27(2):121-129.
    • (2012) Metab. Brain Dis. , vol.27 , Issue.2 , pp. 121-129
    • Campos, D.1    Monaga, M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.