The Problematic Issue of Kufs Disease Diagnosis as Performed on Rectal Biopsies: A Case Report

Ultrastructural Pathology

Volumn 28, Issue 1, 2004, Pages 43-48

  Pasquinelli, G ^a,b   Cenacchi, G ^a   Le Piane, E ^c   Russo, C ^c   Aguglia, U ^c  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^c BIANCHI MELACRINO MORELLI HOSPITAL   (Italy)

Author keywords

Fingerprint inclusions; GRODs; Kufs disease; NCL; Rectal mucosa; Ultrastructure

Indexed keywords

AMYLASE; LIPOFUSCIN;

ADULT; ARTICLE; BRAIN ATROPHY; CASE REPORT; CELL INCLUSION; CELL ULTRASTRUCTURE; CEREBELLUM; CLINICAL FEATURE; DEMENTIA; EPILEPSY; FEMALE; GAIT DISORDER; GENETIC ANALYSIS; HEMISPHERE; HUMAN; INTESTINE MUSCLE; LABORATORY TEST; LIVER; MYOCLONUS; NERVE CELL; NEURONAL CEROID LIPOFUSCINOSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; RECTUM BIOPSY; RECTUM MUCOSA; RELIABILITY; SKELETAL MUSCLE; SKIN; SMOOTH MUSCLE FIBER; WHITE MATTER;

EID: 1542284276     PISSN: 01913123     EISSN: None     Source Type: Journal    
DOI: 10.1080/01913120490275231     Document Type: Article

References (15)

1. Haltia M. The neuronal ceroid-lipofuscinoses. J Nueropathol Exp Neurol. 2003;62:1-13.
2. Boldrini R, Biselli R, Santorelli FM, Bosman C. Neuronal ceroid lipofuscinosis: an ultrastructural, genetic, and clinical study report. Ultrastruct Pathol. 2001;25:51-58.
3. Dyken PJ. The neuronal ceroid lipofuscinoses. J Child Neurol. 1989;4:165-174.
4. Mole SE. Batten's disease: eight genes and still counting? Lancet. 1999;354:443-445.
5. Berkovic SF, Carpenter S, Andermann F, Andermann E, Wolfe LS. Kufs' disease: a critical reappraisal. Brain. 1988;111:27-62.
6. Goebel HH, Braak H. Adult neuronal ceroid-lipofuscinosis. Clin Neuropathol. 1989;8:109-119.
7. Ceuterick-de Groote C, Matin JJ. Extracerebral biopsy in lysosomal and peroxisomal disorders: ultrastructural findings. Brain Pathol. 1998;8:121-132.
8. Carpenter S, Karpati G, Wolfe LS, Andermann F. A type of juvenile cerebromacular degeneration characterised by granular osmiophilic deposits. J Neurol Sci. 1973;18:67-87.
9. Zeman W, Siakotos AN. Neuronal ceroid-lipofuscinoses. In: Lysosomes and Storage Diseases. Hers HG, Van Hoof F, eds. New York: Academic Press; 1973:535-542.
10. Carpenter S. Morphological diagnosis and misdiagnosis in Batten-Kufs disease. Am J Med Gen. 1988;5:85-91.
11. Ghadially FN. Ultrastructural Pathology of the Cell and Matrix, ed 4. London:Butterworth-Heinemann; 1997:752-755.
12. Martin JJ, Ceuterik C. The contribution of pathology to the study of storage disorders. Pathol Res Pract. 1988;183:375-385.
13. Palmer DN, Fearley IM, Walker JE et al. Mitochondrial ATP synthetase subunit c storage in the ceroid-lipofuscinoses. Am J Med Gen. 1992;42:561-567.
14. Tyynela Y, Suopanky J, Baumann M, Haltia M. Sphingolipid activator proteins (SAPs) in neuronal ceroid-lipofuscinosis. Neuropediatrics. 1997;28:49-52.
15. Jolly RD, Bown S, Das AM, Walkley SU. Mitochondrial dysfunction in the neuronal ceroid-lipofuscinosis (Batten disease). Neurochem Int. 2002;40:565-571.