What is Batten?

  1. Aberg LE, Autti T, Braulke T et al. The Neuronal Ceroid Lipofuscinoses (Batten Disease). 2nd ed. Oxford University Press; c2011. Chapter 8, CLN3; 110-139.
  2. Aberg LE, Backman M, Kirveskari E, et al. Epilepsy and Antiepileptic Drug Therapy in Juvenile Neuronal Ceroid Lipofuscinosis. Epilepsia. 2000b; 41(10):1296-1302.
  3. Aberg LE, Liewendahl K, Nikkinen P, et al. Decreased striatal dopamine transporter density in JNCL patients with parkinsonian symptoms. Neurology. 2000a Mar 14;54(5):1069-74. 
  4. Backman ML, Santavuori PR, Aberg LE, et al. Psychiatric symptoms of children and adolescents with juvenile neuronal ceroid lipofuscinosis. J Intellect Disabil Res. 2005 Jan;49(Pt1):25-32.
  5. Boehme DH, Cottrell JC, Leonberg SC, et al. A dominant form of neuronal ceroid-lipofuscinosis. Brain. 1971;94:745–760.
  6. Bozorg S, Ramirez-Montealegre D, Chung M, et al. Juvenile neuronal ceroid lipofuscinosis (JNCL) and the eye. Surv Ophthalmol. 2009 Jul-Aug;54(4):463-71. 
  7. Burneo JG, Arnold T, Palmer CA, et al. Adult-onset neuronal ceroid lipofuscinosis (Kufs disease) with autosomal dominant inheritance in Alabama. Epilepsia.2003;44:841–846.
  8. Chabrol B, Caillaud C, Minassian B. Neuronal ceroid lipofuscinoses. Handb Clin Neurol. 2013;113:1701-6.
  9. Dedelis S. Batten Disease [Internet]. Montreal (QC): Hôpital Sainte-Justine; 2003 [cited 2011 Aug 9]. Available from: http://www.humpath.com/
  10. Ferrer I, Arbizu T, Peña J, et al. A golgi and ultrastructural study of a dominant form of Kufs’ disease. J. Neurol. 1980;222:183–190.
  11. Frequently Asked Questions [Internet]. U.S. National Human Genome Research Institute National Institutes of Health, [updated 2012 Feb 27; cited 2013 Sept 3]. Available from: http://www.genome.gov/27531963
  12. Goebel HH and Wisniewski KE. Current state of clinical and morphological features in human NCL. Brain Pathol. 2004 Jan;14(1):61-9. 
  13. Hofman IL, van der Wal AC, Dingemans KP, et al. Cardiac pathology in neuronal ceroid lipofuscinoses – a clinicopathologic correlation in three patients. Eur J Paediatr Neurol. 2001;5 Suppl A:213-7.
  14. Josephson SA, Schmidt RE, Millsap P, et al. Autosomal dominant Kufs’ disease: A cause of early onset dementia. J. Neurol. Sci. 2001;188:51–60.
  15. Kirveskari E, Partinen M, Salmi T, et al. Sleep alterations in juvenile neuronal ceroid-lipofuscinosis. Pediatr Neurol. 2000 May;22(5):347-54. 
  16. Lamminranta S, Aberg LE, Autti T, et al. Neuropsychological test battery in the follow-up of patients with juvenile neuronal ceroid lipofuscinosis. J Intellect Disabil Res. 2001;45:8-17.
  17. Malcom C, Hain R, Gibson F, et al. Challenging symptoms in children with rare life-limiting conditions: findings from a prospective diary and interview study with families. Acta Paediatr. 2012 Sep;101(9):985-92.
  18. Mole SE, Williams RE. Neuronal Ceroid-Lipofuscinoses [Internet]. GeneReviews;. 2013 Aug 1 [cited 2013 Aug 7]. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1428/
  19. NCL Resource: A Gateway for Batten Disease [Internet]. London: University College London; Available from: http://www.ucl.ac.uk/ncl.
  20. Nijssen P.C., Brusse E., Leyten AC, et al. Autosomal dominant adult neuronal ceroid lipofuscinosis: Parkinsonism due to both striatal and nigral dysfunction. Mov. Disord. 2002;17:482–487.
  21. Ostergaard JR, Rasmussen TB, Molgaard H, et al. Cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease). 2011 Apr 5;76(14):1245-51.
  22. Rakheja D, Narayan SB, Bennett MJ. Juvenile neuronal ceroid-lipofuscinosis (Batten disease): a brief review and update. Curr Mol Med. 2007 Sep;7(6):603-608.
  23. Rare Diseases [Internet]. U.S. National Library of Medicine National Institutes of Health; [updated 2013 Aug 8; cited 2013 March 18]. Available from: http://www.nlm.nih.gov/medlineplus/rarediseases.html/.
  24. Rinne JO, Ruottinen HM, Någren K, Aberg LE, Santavuori P. Positron emission tomography shows reduced striatal dopamine D1 but not D2 receptors in juvenile neuronal ceroid lipofuscinosis. Neuropediatrics. 2002 Jun;33(3):138-41.
  25. Sims KB, Cole AJ, Sherman JC, et al. Case records of the Massachusetts General Hospital. Case 8-2011. A 32-year-old woman with seizures and cognitive decline. N. Engl. J. Med. 2011;364:1062–74.

Diagnosis and Symptoms

  1. Aberg L, Liewendahl K, Nikkinen P, et al. Decreased striatal dopamine transporter density in JNCL in patients with parkinsonian symptoms. Neurology. 2000;54: 1069-74.
  2. Bell CJ, Dinwiddie DL, Miller NA, et al. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med. 2011 Jan 12;3(65):65ra4.
  3. Binelli S, Canafoglia L, Panzica F, et al. S. Electroencephalographic features in a series of patients with neuronal ceroid lipofuscinosis. Neurol Sci. 2000;21:S83-87.
  4. Bozorg S, Ramirez-Montealegre D, Chung M, et al. Juvenile neuronal ceroid lipofuscinosis (JNCL) and the eye. Surv Ophthalmol. 2009 Jul-Aug;54(4):463-71.
  5. Cotman SL, Karaa A, Staropoli JF, et al. Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum. Curr Neurol Neurosci Rep. 2013 Aug;13(8):366
  6. Goebel HH and Wisniewski KE. Current state of clinical and morphological features in human NCL. Brain Pathol. 2004 Jan;14(1):61-9.
  7. Kimura S and Goebel HH. Light and Electron Microscopic Study of Juvenile Ceroid-Lipofuscinosis Lymphocytes. Pediatr Neurol. 1988;4(3):148-152.
  8. Kingsmore SF, Dinwiddie DL, Miller NA, et al. Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing. Expert Rev Mol Diagn. 2011 Nov;11(8):855-68.
  9. Kohlschütter A, Williams RE, Goebel HH, et al. The Neuronal Ceroid Lipofuscinoses (Batten Disease). 2nd Oxford University Press; c2011. Chapter 3, NCL Diagnosis and Algorithms; p. 24-34.
  10. LarsenA, Sainio K, Aberg, L. et al. Electroencephalography in juvenile neuronal ceroid lipofuscinosis: visual and quantitative analysis. Eur J Paediatric Neur. 2001;3(Suppl. A): 179-183.
  11. Rinne JO, Ruottinen HM, Nagren K, et al. Positron emission tomography shows reduced striatal dopamine D1 but not D2 receptors in juvenile neuronal ceroid lipofuscinosis. Neuropediatrics. 2002;33:138-141.
  12. Shire HGT. Rare Disease Impact Report [Internet]. 2013 Apr. Available from: http://www.rarediseaseimpact.com.
  13. Van der Knapp MS, Valk J, Barkhof F. Magnetic Resonance of Myelination and Myelination Disorders. Heidelberge: SpringerLink; c2005. Chapter 15, The Neuronal Ceroid Lipofuscinoses; p.137-146.

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