An autopsy case of juvenile neuronal ceroid-lipofuscinosis with dilated cardiomyopathy

Clinical Neurology

Volumn 40, Issue 4, 2000, Pages 350-357

  Tomiyasu, H ^a   Takahashi, W ^a   Ohta, T ^a   Yoshii, F ^a   Shibuya, M ^a   Shinohara, Y ^a  

^a TOKAI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Dilated cardiomyopathy; Gene analysis; Juvenile neuronal ceroid lipofuscinosis (CLN3); MRI

Indexed keywords

CEROID; LIPOFUSCIN;

ADULT; ARTICLE; ATAXIA; AUTOPSY; BRAIN ATROPHY; BRAIN STEM; BRAIN VENTRICLE DILATATION; CASE REPORT; CEREBELLUM ATROPHY; CLINICAL FEATURE; ELECTROCARDIOGRAM; ELECTRON MICROSCOPY; EPILEPSY; GENETIC ANALYSIS; HEART DILATATION; HEART MUSCLE; HEART MUSCLE FIBROSIS; HUMAN; LIPID STORAGE; MALE; MENTAL DEFICIENCY; MYOCLONUS; NEURONAL CEROID LIPOFUSCINOSIS; NIGHT BLINDNESS; NUCLEAR MAGNETIC RESONANCE IMAGING; RETINITIS PIGMENTOSA; WHITE MATTER;

ADULT; CARDIOMYOPATHY, DILATED; HEART FAILURE, CONGESTIVE; HUMANS; MALE; NEURONAL CEROID-LIPOFUSCINOSES;

EID: 0033823460     PISSN: 0009918X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (19)

1. Infantile neuronal ceroid lipofuscinosis (CLN1) : Linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a nonallelic locus
2. Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23
3. Efficientconstruction of a physical map by fiber-fish of the CLN 5 region : Refined assignment and long-range contig covering the critical region 13q22
4. Batten disease (Spielmeyer-Vogt : Juvenile onset neuronal ceroid lipofuscinosis) maps to human chromosome 16
5. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
6. Association of mutations in lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis
7. Isolation of a novel gene underlying Batten disease
8. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy
9. Neuronal ceroid-lipofuscinosis (Batten's disease) ; Relationship to amaurotic family idiocy?
10. Spectrum of mutations in the Batten disease gene, CLN3
11. MRI of neuronal ceroid lipofuscinosis I. Cranial MRI of 30 patients with juvenile neuronal ceroid lipofuscinosis
12. MRI of neuronal ceroid lipofuscinosis. II. Postmortem MRI and histopathological study of the brain in 16 cases of neuronal ceroid lipofuscinosis of juvenile or late infantile type
13. Cardiac involvement in juvenile ceroid lipofuscinosis of the Spielmeyer-Vogt-Sjogren type : Prospective noninvasive findings in two siblings
14. The effects of metabolic disease on the cardiovascular system
15. Visceral involvement in juvenile amaurotic idiocy
16. Cardiac involvement in juvenile amaurotic idiocy-A specific heart muscle disorder. Histological findings in 13 autopsied patients
17. A family with adult type ceroid lipofuscinosis (Kufs' disease) and heart muscle disease: Report of two autopsy cases