+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Neuronal ceroid lipofuscinoses: Pathological features of bioptic specimens from 28 patients



Neuronal ceroid lipofuscinoses: Pathological features of bioptic specimens from 28 patients



Neurological Sciences 21(3 Suppl.): S63-S70



Clinical findings and pathological features of 28 patients affected with neuronal ceroid lipofuscinoses (NCL) are reviewed. The patient group included 15 children affected with the late-infantile form of NCL (LINCL), 10 patients affected with the juvenile form (JNCL), and 3 adult cases. Ultrastructural examinations of 50 biopsies from 6 tissues were consistent with clinical features in all LINCL and JNCL cases but one. The importance of electron microscopic (EM) examination of blood lymphocytes in these forms is outlined, particularly when combined with molecular analysis of the CLN2 or CLN3 genes, respectively. This approach leads to a definite diagnosis of LINCL and JNCL in a relatively short time. In adult NCL, diagnosis still relies on pathological grounds, and difficulties in interpreting the osmiophilic storage bodies in different tissues are outlined. EM investigation of blood lymphocytes was not helpful in any case of adult NCL. Results of one stereotactic brain biopsy are also reported.

Please choose payment method:






(PDF emailed within 0-6 h: $19.90)

Accession: 011048194

Download citation: RISBibTeXText

PMID: 11073230

DOI: 10.1007/s100720070042


Related references

Electroencephalographic features in a series of patients with neuronal ceroid lipofuscinoses. Neurological Sciences 21(3 Suppl.): S83-S87, 2000

Ultrastructural features of lipopigments in neuronal ceroid lipofuscinoses especially in biopsies. Aloj Totaro, E , P Glees And F A Pisanti (Ed ) Advances in The Biosciences, Vol 64 Advances in Age Pigments Research; First International Workshop on Age Pigments: Biological Markers in Aging And Environmental Stress, Vico Equense, Italy, May 29-June 1, 1985 Ix+427p Pergamon Press: Oxford, England, Uk; New York, New York, Usa Illus 249-276, 1987

Variability in the clinical and pathological findings in the neuronal ceroid lipofuscinoses: review of data and observations. American Journal of Medical Genetics 42(4): 525-532, 1992

Clinico-pathological variability in the childhood neuronal ceroid-lipofuscinoses and new observations on glycoprotein abnormalities. American Journal of Medical Genetics. Suppl. 5: 27-46, 1988

Cathepsin D-deficient Drosophila recapitulate the key features of neuronal ceroid lipofuscinoses. Neurobiology of Disease 19(1-2): 194-199, 2005

Clinical features and molecular genetic basis of the neuronal ceroid lipofuscinoses. Advances in Neurology 89: 211-215, 2002

Diagnoses of childhood onset neuronal ceroid lipofuscinoses; clinical, pathological, biochemical, and molecular aspects. European Journal of Human Genetics 9(Suppl. 1): P1098, 2001

Ceroid lipofuscin in Hermansky-Pudlak syndrome and neuronal ceroid lipofuscinoses. Proceedings of the Finnish Dental Society. Suomen Hammaslaakariseuran Toimituksia 86(2): 99-102, 1990

Clinical, genetic and pathological features of neuronal ceroid lipofuscinosis in 5 Chinese patients. Zhonghua Yi Xue Za Zhi 96(43): 3504-3507, 2017

Cardiac pathology in neuronal ceroid lipofuscinoses--a clinicopathologic correlation in three patients. European Journal of Paediatric Neurology 5 Suppl A: 213-217, 2001

Mannose-6-phosphorylated glycoproteins in brains of patients with neuronal ceroid-lipofuscinoses. FASEB Journal 11(9): A1420, 1997

An autoantibody to GAD65 in sera of patients with juvenile neuronal ceroid lipofuscinoses. Neurology 59(11): 1816-1817, 2002

Cardiac pathology in neuronal ceroid lipofuscinoses a clinicopathologic correlation in three patients. European Journal of Paediatric Neurology 5(Supp-S1): 213-217, 2001

Ceroid-lipofuscinoses. Batten disease and allied disorders. Proceedings of the International Conference of Ceroid-Lipofuscinoses held on Staten Island, New York, April 30 and May 1, 1987. Ceroid lipofuscinoses Batten disease and allied disorders Proceedings of the International Conference of Ceroid Lipofuscinoses held on Staten Island, New York, April 30 and May 1, 1987: 307, 1988

Bright light suppresses melatonin in blind patients with neuronal ceroid-lipofuscinoses. Neurology 50(5): 1445-1450, 1998