Skip to main content Accessibility help

We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.

Close cookie message
×
Hostname: page-component-7479d7b7d-k7p5g Total loading time: 0 Render date: 2024-07-08T08:20:23.117Z Has data issue: false hasContentIssue false

Childhood Disorders

from Section 4 - Neurodegenerative and Other Progressive Disorders in Childhood

Published online by Cambridge University Press:  28 April 2017

Juan M. Pascual
Juan M. Pascual
Affiliation:
University of Texas Southwestern Medical Center, Dallas
Get access

Summary

A summary is not available for this content so a preview has been provided. Please use the Get access link above for information on how to access this content.
Image of the first page of this content. For PDF version, please use the ‘Save PDF’ preceeding this image.'
Type
Chapter
Information
Progressive Brain Disorders in Childhood , pp. 231 - 373
Publisher: Cambridge University Press
Print publication year: 2017

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Bibliography

Joensuu, T., Lehesjoki, A.E., Kopra, O. (2008). Molecular background of EPM1-Unverricht–Lundborg disease. Epilepsia. 49(4):557–63.CrossRefGoogle ScholarPubMed
Kälviäinen, R., Khyuppenen, J., Koskenkorva, P., et al. (2008). Clinical picture of EPM1-Unverricht–Lundborg disease. Epilepsia. 49(4).549–56.CrossRefGoogle ScholarPubMed
Saadah, M., El Beshari, M., Saadah, L., et al. (2014). Progressive myoclonic epilepsy type 1: Report of an Emirati family and literature review. Epilepsy Behav Case Rep. 2:112–17.Google ScholarPubMed

Bibliography

Monaghan, T.S., Delanty, N. (2010). Lafora disease: epidemiology, pathophysiology and management. CNS Drugs. 24(7):549–61.CrossRefGoogle ScholarPubMed
Poyrazoğlu, H.G., Karaca, E., Per, H., et al. (2015). Three patients with lafora disease: Different clinical presentations and a novel mutation. J Child Neurol. 30(6):777–81.CrossRefGoogle Scholar

Bibliography

Kulikova-Schupak, R., Knupp, K.G., Pascual, J.M., et al. (2004). Rectal biopsy in the diagnosis of neuronal intranuclear hyaline inclusion disease. J Child Neurol. 19(1):59–62.CrossRefGoogle ScholarPubMed

Bibliography

Cooper, J.D., Tarczyluk, M.A., Nelvagal, H.R. (2015). Towards a new understanding of NCL pathogenesis. Biochim Biophys Acta. 1852(10 Pt B):2256–61.Google ScholarPubMed
Patiño, L.C., Battu, R., Ortega-Recalde, O., et al. (2014). Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis. PLoS One. 9(10):e109576.CrossRefGoogle ScholarPubMed

Bibliography

Adams, H.R., Mink, J.W. (2013). Neurobehavioral features and natural history of juvenile neuronal ceroid lipofuscinosis (Batten disease). J Child Neurol. 28(9):1128–36.CrossRefGoogle ScholarPubMed
Cárcel-Trullols, J., Kovács, A.D., Pearce, D.A. (2015). Cell biology of the NCL proteins: What they do and don’t do. Biochim Biophys Acta. 1852(10 Pt B):2242–55.Google Scholar
Dy, M.E., Sims, K.B., Friedman, J. (2015). TPP1 deficiency: Rare cause of isolated childhood-onset progressive ataxia. Neurology. 85(14):1259–61.CrossRefGoogle ScholarPubMed

Bibliography

Desbats, M.A., Lunardi, G., Doimo, M., et al. (2015). Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency. J Inherit Metab Dis. 38(1):145–56.CrossRefGoogle ScholarPubMed
Laredj, L.N., Licitra, F., Puccio, H.M. (2014). The molecular genetics of coenzyme Q biosynthesis in health and disease. Biochimie. 100:78–87.CrossRefGoogle ScholarPubMed
Sobreira, C., Hirano, M., Shanske, S., et al. (1997). Mitochondrial encephalomyopathy with coenzyme Q10 deficiency. Neurology. 48(5):1238–43.CrossRefGoogle ScholarPubMed

Bibliography

El-Hattab, A.W., Scaglia, F. (2016). Mitochondrial cytopathies. Cell Calcium. pii:S0143–4160(16)30021–5.Google Scholar
Sarnat, H.B., Marín-García, J. (2005). Pathology of mitochondrial encephalomyopathies. Can J Neurol Sci. 32(2):152–66.CrossRefGoogle ScholarPubMed

Bibliography

Singh, R.R., Sedani, S., Lim, M., et al. (2015). RANBP2 mutation and acute necrotizing encephalopathy: 2 cases and a literature review of the expanding clinico-radiological phenotype. Eur J Paediatr Neurol. 19(2):106–13.CrossRefGoogle Scholar

Bibliography

Filocamo, M., Mazzotti, R., Stroppiano, M., et al. (2004). Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L). Epilepsia. 45(9):1154–7.CrossRefGoogle ScholarPubMed
Mistry, P.K., Belmatoug, N., vom Dahl, S., et al. (2015). Understanding the natural history of Gaucher disease. Am J Hematol. 90 Suppl 1:S6–11.CrossRefGoogle ScholarPubMed

Bibliography

Benussi, A., Alberici, A., Premi, E., et al. (2015). Phenotypic heterogeneity of Niemann–Pick disease type C in monozygotic twins. J Neurol. 262(3):642–7.CrossRefGoogle ScholarPubMed

Bibliography

Kenney, D., Wickremasinghe, A.C., Ameenuddin, N., et al. (2014). A 19-month-old girl of South Indian parents presented to a general pediatric clinic for evaluation of global developmental regression. Semin Pediatr Neurol. 21(2):88–9.CrossRefGoogle ScholarPubMed
Sandhoff, K., Harzer, K. (2013). Gangliosides and gangliosidoses: Principles of molecular and metabolic pathogenesis. J Neurosci. 33(25):10195–208.CrossRefGoogle ScholarPubMed

Bibliography

Ballabio, A., Gieselmann, V. (2009). Lysosomal disorders: from storage to cellular damage. Biochim Biophys Acta. 1793(4):684–96.Google ScholarPubMed
Cimaz, R., La Torre, F. (2014). Mucopolysaccharidoses. Curr Rheumatol Rep. 16(1):389.CrossRefGoogle ScholarPubMed
Lehman, T.J., Miller, N., Norquist, B., Underhill, L., Keutzer, J. (2011). Diagnosis of the mucopolysaccharidoses. Rheumatology (Oxford). 50 Suppl 5:v41–8.CrossRefGoogle ScholarPubMed
Rasheeedah, I., Patrick, O., Abdullateef, A., et al. (2015). Challenges in the management of mucopolysaccharidosis Type II (Hunter’s syndrome) in a developing country: A case report. Ethiop J Health Sci.; 25(3):279–82.Google Scholar

Bibliography

Lund, T.C., Cathey, S.S., Miller, W.P., et al. (2014). Outcomes after hematopoietic stem cell transplantation for children with I-cell disease. Biol Blood Marrow Transplant. 20(11):1847–51.CrossRefGoogle ScholarPubMed
Wakabayashi, K., Gustafson, A.M., Sidransky, E, et al. (2011). Mucolipidosis type IV: An update. Mol Genet Metab. 104(3):206–13.CrossRefGoogle ScholarPubMed
Wraith, J.E. (2013). Mucopolysaccharidoses and mucolipidoses. Handb Clin Neurol. 113:1723–9.CrossRefGoogle ScholarPubMed

Bibliography

Kılıç, E., Kılıç, M., Ütine, G.E., et al. (2014). A case of fucosidosis type II: Diagnosed with dysmorphological and radiological findings. Turk J Pediatr. 56(4).430–3.Google ScholarPubMed
Michalski, JC, Klein, A. (1999). Glycoprotein lysosomal storage disorders: Alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency. Biochim Biophys Acta. 1455(2–3):69–84.CrossRefGoogle ScholarPubMed
Willems, P.J., Seo, H.C., Coucke, P, et al. (1999); Spectrum of mutations in fucosidosis. Eur J Hum Genet. 7(1):60–7.CrossRefGoogle ScholarPubMed

Bibliography

Borgwardt, L., Lund, A.M., Dali, C.I. (2014). Alpha-mannosidosis – A review of genetic, clinical findings and options of treatment. Pediatr Endocrinol Rev. 12 Suppl 1:185–91.Google ScholarPubMed
Malm, D., Nilssen, Ø. (2008). Alpha-mannosidosis. Orphanet J Rare Dis. 3:21.CrossRefGoogle ScholarPubMed

Bibliography

Brunetti-Pierri, N., Scaglia, F. (2008). GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects. Mol Genet Metab. 94(4):391–6.CrossRefGoogle ScholarPubMed
Sandhoff, K., Harzer, K. (2013). Gangliosides and gangliosidoses: Principles of molecular and metabolic pathogenesis. J Neurosci. 33(25):10195–208.CrossRefGoogle ScholarPubMed
Takenouchi, T., Kosaki, R., Nakabayashi, K., et al. (2015). Paramagnetic signals in the globus pallidus as late radiographic sign of juvenile-onset GM1 gangliosidosis. Pediatr Neurol. 52(2):226–9.CrossRefGoogle ScholarPubMed

Bibliography

Ellaway, C. (2016). Paediatric Fabry disease. Transl Pediatr. 2016; 5(1):37–42.Google ScholarPubMed
Silva, L.B., Badiz, T.C., Enokihara, M.M., et al. (2014). Fabry disease: Clinical and genotypic aspects of three cases in first degree relatives. An Bras Dermatol. 89(1):141–3.CrossRefGoogle ScholarPubMed

Bibliography

Bröer, S. (2009). The role of the neutral amino acid transporter B0AT1 (SLC6A19) in Hartnup disorder and protein nutrition. IUBMB Life. 61(6):591–9.CrossRefGoogle ScholarPubMed
Cheon, C.K., Lee, B.H., Ko, J.M., et al. (2010). Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder. Pediatr Neurol. 42(5):369–71.CrossRefGoogle ScholarPubMed
Tahmoush, A.J., Alpers, D.H, Feigin, R.D., et al. (1976). Hartnup disease: Clinical, pathological, and biochemical observations. Arch Neurol. 33(12):797–807.CrossRefGoogle ScholarPubMed

Bibliography

Desnick, R.J., Wang, A.M. (1990). Schindler disease: An inherited neuroaxonal dystrophy due to alpha-N-acetylgalactosaminidase deficiency. J Inherit Metab Dis. 13(4):549–59.CrossRefGoogle ScholarPubMed
Rudolf, J., Grond, M., Schindler, D., et al. (1999). Cerebral glucose metabolism in type I alpha-N-acetylgalactosaminidase deficiency: An infantile neuroaxonal dystrophy. J Child Neurol. 14(8):543–7.CrossRefGoogle ScholarPubMed
Westaway, S.K., Gregory, A., Hayflick, S.J. (2007). Mutations in PLA2G6 and the riddle of Schindler disease.J Med Genet. 44(1):e64.CrossRefGoogle ScholarPubMed

Bibliography

Ferrer, I., Aubourg, P., Pujol, A. (2010). General aspects and neuropathology of X-linked adrenoleukodystrophy. Brain Pathol. 20(4):817–30.CrossRefGoogle ScholarPubMed
Kemp, S., Berger, J., Aubourg, P. (2012). X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects. Biochim Biophys Acta; 1822(9):1465–74.Google ScholarPubMed
Wiesinger, C., Eichler, F.S., Berger, J. (2015). The genetic landscape of X-linked adrenoleukodystrophy: Inheritance, mutations, modifier genes, and diagnosis. Appl Clin Genet. 8:109–21.Google ScholarPubMed

Bibliography

Hayflick, S.J. (2014). Defective pantothenate metabolism and neurodegeneration Biochem Soc Trans. 42(4):1063–8.CrossRefGoogle ScholarPubMed
Zolkipli, Z., Dahmoush, H., Saunders, D.E., et al. (2006). Pantothenate kinase 2 mutation with classic pantothenate-kinase-associated neurodegeneration without “eye-of-the-tiger” sign on MRI in a pair of siblings. Pediatr Radiol. 36(8):884–6.CrossRefGoogle Scholar

Bibliography

Sahama, I., Sinclair, K., Pannek, K., et al. (2014). Radiological imaging in ataxia telangiectasia: A review. Cerebellum. 13(4):521–30.CrossRefGoogle ScholarPubMed
Shiloh, Y., Lederman, H.M. (2016). Ataxia-Telangiectasia (A-T): An Emerging Dimension of Premature Ageing. Ageing Res Rev. pii:S1568–1637(16)30078–2.Google Scholar
Taylor, A.M., Lam, Z., Last, J.I., et al. (2015). Ataxia telangiectasia: More variation at clinical and cellular levels Clin Genet. 87(3):199–208.CrossRefGoogle ScholarPubMed

Bibliography

Dhamija, R., Kirmani, S. (2014). A 7-year-old girl with hypertrophic cardiomyopathy and progressive scoliosis. Semin Pediatr Neurol. 21(2):67–71.CrossRefGoogle ScholarPubMed
Pastore, A., Puccio, H. (2013). Frataxin: A protein in search for a function.J Neurochem. 126 Suppl 1:43–52.CrossRefGoogle ScholarPubMed
Storey, E. (2014). Genetic cerebellar ataxias. Semin Neurol. 34(3):280–92.Google ScholarPubMed

Bibliography

Burnett, J.R., Hooper, A.J. (2015). Vitamin E and oxidative stress in abetalipoproteinemia and familial hypobetalipoproteinemia. Free Radic Biol Med. 88(Pt A):59–62.CrossRefGoogle ScholarPubMed
Hammer, M.B., El Euch-Fayache, G., Nehdi, H., et al. (2014). Clinical features and molecular genetics of two Tunisian families with abetalipoproteinemia. J Clin Neurosci. 21(2):311–15.CrossRefGoogle ScholarPubMed
Levy, E. (2015). Insights from human congenital disorders of intestinal lipid metabolism. J Lipid Res. 56(5):945–62.CrossRefGoogle ScholarPubMed

Bibliography

Bugiani, M., Boor, I., Powers, J.M., et al. (2010). Leukoencephalopathy with vanishing white matter: A review. J Neuropathol Exp Neurol. 69(10):987–96.CrossRefGoogle ScholarPubMed
Renaud, D.L. (2012). Leukoencephalopathies associated with macrocephaly.Semin Neurol. 32(1):34–41.Google ScholarPubMed

Bibliography

Dueñas, A.M., Goold, R., Giunti, P. (2006). Molecular pathogenesis of spinocerebellar ataxias. Brain. 129(Pt 6):1357–70.CrossRefGoogle ScholarPubMed
Edener, U., Wöllner, J., Hehr, U., et al. (2010). Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation. Eur J Hum Genet. 18(8):965–8.CrossRefGoogle Scholar
Storey, E. (2014). Genetic cerebellar ataxias. Semin Neurol. 34(3):280–92.Google ScholarPubMed
Sun, Y.M., Lu, C., Wu, Z.Y. (2016). Spinocerebellar ataxia: Relationship between phenotype and genotype-A Review. Clin Genet. 90(4):305–14.CrossRefGoogle ScholarPubMed

Bibliography

Hoyle, J.C., Isfort, M.C., Roggenbuck, J., et al. (2015). The genetics of Charcot-Marie-Tooth disease: Current trends and future implications for diagnosis and management.Appl Clin Genet. 8:235–43.Google ScholarPubMed
Jani-Acsadi, A., Ounpuu, S., Pierz, K., et al. (2015). Pediatric Charcot-Marie-Tooth disease.Pediatr Clin North Am. 62(3):767–86.CrossRefGoogle ScholarPubMed
Yang, Y., Li, L. (2016). A novel p.Val244Leu mutation in MFN2 leads to Charcot-Marie-Tooth disease type 2. Ital J Pediatr. 42(1):28.CrossRefGoogle ScholarPubMed

Bibliography

Kamate, M., Ramakrishna, S., Kambali, S., et al. (2014). Giant axonal neuropathy: A rare inherited neuropathy with simple clinical clues. BMJ Case Rep. 2014; pii:bcr2014204481.CrossRefGoogle Scholar

Bibliography

Kim, J.I., Choi, J.K., Lee, J.W., et al. (2015). A novel missense mutation in GCH1 gene in a Korean family with Segawa disease. Brain Dev.37(3):359–61.CrossRefGoogle Scholar
Rodan, L.H., Gibson, K.M., Pearl, P.L. (2015). Clinical use of CSF Neurotransmitters. Pediatr Neurol. 53(4):277–86.CrossRefGoogle ScholarPubMed

Bibliography

Ortigoza-Escobar, J.D., Molero-Luis, M., Arias, A., et al. (2016). Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome. Brain. 139(Pt 1):31–8.CrossRefGoogle ScholarPubMed
Pérez-Dueñas, B., Serrano, M., Rebollo, M., et al. (2013). Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency. Pediatrics. 131(5):e1670–5.CrossRefGoogle Scholar

Bibliography

Granata, T., Andermann, F. (2013). Rasmussen encephalitis. Handb Clin Neurol. 111:511–19.CrossRefGoogle ScholarPubMed
Holec, M., Nagahama, Y., Kovach, C., et al. (2016). Rethinking the Magnetic Resonance Imaging Findings in Early Rasmussen Encephalitis: A Case Report and Review of the Literature.Pediatr Neurol. 59:85–9.CrossRefGoogle ScholarPubMed

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

  • Childhood Disorders
  • Juan M. Pascual, University of Texas Southwestern Medical Center, Dallas
  • Book: Progressive Brain Disorders in Childhood
  • Online publication: 28 April 2017
Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

  • Childhood Disorders
  • Juan M. Pascual, University of Texas Southwestern Medical Center, Dallas
  • Book: Progressive Brain Disorders in Childhood
  • Online publication: 28 April 2017
Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

  • Childhood Disorders
  • Juan M. Pascual, University of Texas Southwestern Medical Center, Dallas
  • Book: Progressive Brain Disorders in Childhood
  • Online publication: 28 April 2017
Available formats
×