title: [Diagnostics and treatment of neuronal ceroid lipofuscinoses from the viewpoint of neuropediatricians].
abstract: The neuronal ceroid lipofuscinoses (NCL) are a heterogeneous group of lysosomal diseases with rapidly progressive neurodegeneration and characteristic lipopigmentary lysosomal inclusions. The clinical picture is characterized by motor disturbances, developmental delay, behavioral abnormalities, epilepsy, loss of vision and dementia. Cranial MRI reveals global brain atrophy and in particular early atrophy of the cerebellum. If an NCL disease is suspected initial diagnostic assessment for the CLN1, CLN2, CLN3 and CLN10 subtypes is recommended. The investigations can be done with a dried blood spotted on filter paper. If the results are negative but an NCL disease is still suspected the further approach should be coordinated with an expert in the field. Possible other diagnostic examinations include electron microscopy of the storage material in lymphocytes and skin biopsy specimens or molecular genetic analysis of the suspected NCL gene. At present only symptomatic therapy is available for NCL diseases.
authors.affiliation: Zentrum Kinderheilkunde und Jugendmedizin, Pädiatrie II mit Schwerpunkt Neuropädiatrie, Georg-August-Universität Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Germany. rsteinfeld@med.uni-goettingen.de
authors.forename: R
authors.initials: R
authors.lastname: Steinfeld
mesh_terms: D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D005819:Genetic Markers / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D008297:Male; D009472:Neuronal Ceroid-Lipofuscinoses / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D000091346:Tripeptidyl-Peptidase 1; D014786:Vision Disorders / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics / Q000628:therapy*
chemical_list: D005819:Genetic Markers; D000091346:Tripeptidyl-Peptidase 1; C000717267:TPP1 protein, human
references.citation: Am J Hum Genet. 1997 Aug;61(2):310-6
references.pmid: 9311735
references.citation: Am J Hum Genet. 2002 Feb;70(2):537-42
references.pmid: 11727201
references.citation: Hum Mol Genet. 2001 Jun 15;10(13):1431-9
references.pmid: 11440996
references.citation: Hum Mutat. 2004 Apr;23(4):300-5
references.pmid: 15024724
references.citation: Hum Mol Genet. 2004 Oct 15;13(20):2483-91
references.pmid: 15317752
references.citation: Brain. 2006 Jun;129(Pt 6):1438-45
references.pmid: 16670177
references.citation: Am J Hum Genet. 2006 Jun;78(6):988-98
references.pmid: 16685649
references.citation: Nat Genet. 1998 Jul;19(3):286-8
references.pmid: 9662406
references.citation: Am J Hum Genet. 2007 Jul;81(1):136-46
references.pmid: 17564970