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1. |
Bibliography on ceroid‐lipofuscinoses |
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American Journal of Medical Genetics,
Volume 31,
Issue S5,
1988,
Page 1-20
Lawrence Black,
Raju K. Pullarkat,
John M. Opitz,
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ISSN:0148-7299
DOI:10.1002/ajmg.1320310605
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1988
数据来源: WILEY
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2. |
Batten disease: Past, present, and future |
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American Journal of Medical Genetics,
Volume 31,
Issue S5,
1988,
Page 21-26
J. Alfred Rider,
Dean L. Rider,
John M. Opitz,
James F. Reynolds,
Raju K. Pullarkat,
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摘要:
AbstractThe name Batten disease (or neuronal ceroid lipofuscinosis ) is used to unify the spectrum of clinical and pathological conditions covered by the names infantile, late infantile, juvenile, and adult variants with their respective eponyms. The past was largely devoted to clinical diagnosis. The present is devoted to specific diagnostic tests. The future will be devoted to prevention and treatment.Treatment may consist of specific drug treatment, enzyme replacement, or gene replacement.Early diagnosis is important in order to provide genetic counseling and to establish family support for those patients who have a protracted, progressive disabling and ultimate fatal course.
ISSN:0148-7299
DOI:10.1002/ajmg.1320310606
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1988
数据来源: WILEY
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3. |
Clinico‐pathological variability in the childhood neuronal ceroid‐lipofuscinoses and new observations on glycoprotein abnormalities |
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American Journal of Medical Genetics,
Volume 31,
Issue S5,
1988,
Page 27-46
K. E. Wisniewski,
I. Rapin,
J. Heaney‐Kieras,
John M. Opitz,
James F. Reynolds,
Raju K. Pullarkat,
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摘要:
AbstractOur 86 cases of neuronal ceroid‐lipofuscinosis (NCL) included 7 children with the infantile variant, 28 with the late infantile variant, and 51 with the juvenile variant. Thirty‐one cases were drawn from a NCL registry and were not evaluated personally by the authors. Another 30 cases from the registry were not included because of inadequate data. The clinical course was subacute in most children with the infantile and late infantile variants and chronic in the juvenile variant. Sixteen of 86 cases (19%) were considered to be atypical clinically [3/7 (43%) with the infantile variant, 3/28 (11%) with the late infantile variant, and 10/51 (20%) with the juvenile variant]. Clinical variability among and between families was most striking in the juvenile variant. Pathological investigations of skin, buffy coat and/or brain showed atypical and/or more than one type of cytoplasmic inclusions in 10/50 (20%) of late infantile and juvenile variants. All of the children with the infantile variant had granular, osmiophilic profile in tissues. Biochemical studies on the glycoprotiens of cultured fibroblasts in three cases of juvenile NCL showed that there was a higher proportion of one size class of N‐linked oligosaccharides and a higher proportion of mannose‐containing glycoproteins in NCL than in control cells. This supports previous lectin histochemical studies of glycoconjugates in skin of juvenile NCL [Wisniewski and Szumanska, 1986]and suggests that there may be defects in the processing of N‐linked oligosaccharides in the glycoproteins of juv
ISSN:0148-7299
DOI:10.1002/ajmg.1320310607
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1988
数据来源: WILEY
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4. |
Clinical classification of neuronal ceroid‐lipofuscinosis subtypes |
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American Journal of Medical Genetics,
Volume 31,
Issue S5,
1988,
Page 47-58
Rose‐Mary N. Boustany,
Joseph Alroy,
Edwin H. Kolodny,
John M. Opitz,
James F. Reynolds,
Raju K. Pullarkat,
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摘要:
AbstractNeuronal ceroid‐lipofuscinosis is the most common class of neurodegenerative disease in children. After decades of study, the biochemical basis for this group of diseases continues to elude scientists. One obstacle has been the difficulty in establishing specific criteria for diagnosis. This paper reviews case material from 65 patients referred to the Shriver Center for study from January, 1984 to December, 1986.The late‐infantile type was the most commonly encountered (35%) with a mean age‐of‐onset of 3.1 ± 0.5 yr. The juvenile type was slightly less frequent (32%) with a mean age‐of‐onset of 7.8 ± 4 yr. The infantile type ranked third (23%); age‐of‐onset 11 ± 4 months) and the adult form of the disease was the least common (10%; age‐of‐onset 25 ± 4 yr). Consistent clinical findings were a progressive decline in mental faculties and seizures, predominantly of the myoclonic type. Neuroradiological changes of cerebral and cerebellar cortical atrophy were common when studies were obtained more than a year after clinical onset. Ataxia was a frequent manifestation in the late‐infantile and juvenile types whereas dystonia was unique to the latter. There was a diversity of ultrastructural findings in skin biopsies between and within types. The absence of findings in a few familial cases necessitated sampling a second tissue such as muscle, particularly when the history was suggestive and urine dolichols were high. Elevated urine dolichol levels was a nonspe
ISSN:0148-7299
DOI:10.1002/ajmg.1320310608
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1988
数据来源: WILEY
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5. |
Clinical and biochemical studies of Japanese neuronal ceroid‐lipofuscinosis |
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American Journal of Medical Genetics,
Volume 31,
Issue S5,
1988,
Page 59-67
Yoshikatsu Eto,
Takashi Tsuda,
Toya Ohhashi,
Shuichi Yamaguchi,
Akira Okuno,
John M. Opitz,
James F. Reynolds,
Raju K. Pullarkat,
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摘要:
AbstractWe studied clinical manifestations of Japanese patients with neuronal ceroid‐lipofuscinosis (NCL). The onset of the disease and initial symptoms were almost identical to those reported previously in Caucasians. Japanese patients with NCL significantly clinically different from Caucasian cases. An atypical case NCL associated with a deficiency of diaminobenzidine peroxidase activity was also presented.Pathogenesis of NCL was studied on the basis of urine dolichol excretion, autofluorescent compounds in urine, thiol protease activities and protein analysis in tissues of NCL patients. Possible biochemical abnormalities in NCL are discusse
ISSN:0148-7299
DOI:10.1002/ajmg.1320310609
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1988
数据来源: WILEY
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6. |
Reconsideration of the classification of the neuronal ceroid‐lipofuscinoses |
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American Journal of Medical Genetics,
Volume 31,
Issue S5,
1988,
Page 69-84
Paul Richard Dyken,
John M. Opitz,
James F. Reynolds,
Raju K. Pullarkat,
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摘要:
AbstractNeuronal ceroid‐lipofuscinoses (NCL) represent diseases of different types. Each variety of NCL may have its own clinical course, genetics, pathogenesis, and treatment. Four disorders are presently accepted as examples of NCL. These include the chronic juvenile or Batten type, the acute late infantile or Bielschowsky type, the chronic or subacute adult Kufs type, and the acute infantile or Santavuori‐Haltia type.Seventy patients with clinical and pathological features of NCL have been studied over 20 years; 62 of these fit into one of the above categories, but 8 are atypical and present nosologic problems. Recognized as examples of atypical NCL are 1) chronic congenital or Norman‐Wood type, 2) acute adult or Zeman‐Dyken type, 3) acute childhood or Bielschowsky variant, 4) chronic childhood (Edathodu‐Dyken) type, with pervasiveness, 5) chronic infantile (Dyken) type with autism, and 6) chronic juvenile (Dyken) type with ataxia.It is proposed that our present classification of NCL be based on differentiating clinical dynamics and characteristics age‐of‐onset, and morphological and pathological criteria. Although genetic characteristics are now recognized, these are of autosomal recessive or autosomal dominant type. No differentiating biochemical difference have been established to aid in the nosology of t
ISSN:0148-7299
DOI:10.1002/ajmg.1320310610
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1988
数据来源: WILEY
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7. |
Morphological diagnosis and misdiagnosis in Batten‐Kufs disease |
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American Journal of Medical Genetics,
Volume 31,
Issue S5,
1988,
Page 85-91
Stirling Carpenter,
John M. Opitz,
James F. Reynolds,
Raju K. Pullarkat,
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摘要:
AbstractSkin biopsy is a reliable method for diagnosis of Batten disease; it is probably not reliable in Kufs disease. Eccrine secretory cells are the most consistently involved cell type. The abundance of lysosomal storage facilitates diagnosis in infantile and late‐infantile cases. The curvilinear bodies of the late‐infantile cases have high specificity and should be easily recognizable, though their lamination must be demonstrable. In the usual juvenile cases the cell types involved are more limited, and a superficial biopsy, which does not include eccrine secretory cells, may be nondiagnostic. These cells may contain fingerprint profiles in occasional juvenile, adolescent, or adult patients with other disease. Thus, verification of involvement of a second cell type, such as duct cells, Schwann cells, and smooth or skeletal muscle, is essential. In all varieties of the disease criteria for the ultrastructural patterns must be followed. Otherwise, confusion may arise with normal organelles, with banal lipofuscin, or with nonspecific lysoso
ISSN:0148-7299
DOI:10.1002/ajmg.1320310611
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1988
数据来源: WILEY
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8. |
Ultrastructural studies as a method of prenatal diagnosis of neuronal ceroid‐lipofuscinosis |
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American Journal of Medical Genetics,
Volume 31,
Issue S5,
1988,
Page 93-97
Patrick M. MacLeod,
Sukriti Nag,
Cynthia Berry,
John M. Opitz,
James F. Reynolds,
Raju K. Pullarkat,
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摘要:
AbstractUltrastructural Studies of uncultured amniotic fluid cells obtained by genetic amniocentesis at 16 wk of gestation demonstrated 3 major cell types. Membrane bound curvilinear cytosomes were observed in about 30% of a subpopulation of dark, elongated cells. These are considered typical of the inclusions of the late infantile variant of neuronal ceroid‐lipofuscinosis.This technique was to monitor 6 at‐risk pregnancies of which 2 were identified as affected. We have followed 6 of the 7 fetuses through to delivery with confirmation of our findings by skin biopsy in 4 and with clinical observations of a fifth child.There are major problems involved in the use of uncultured amniotic fluid cells for prenatal diagnosis. In addition to a great deal of heterogeneity of cell type, there is a considerable amount of tissue debris and a very high proportion of nonviable cells.We have examined chorionic villus tissues of 3 fetuses known to have inborn errors of lysosomal metabolism without finding any evidence of storage material. This is taken as an indication that the mutant gene(s) is not expressed in these tissues at this early stage of pregnancy.Notwithstanding these limitations, the usefulness of this technique in monitoring at‐risk pregnancies has to be deter
ISSN:0148-7299
DOI:10.1002/ajmg.1320310612
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1988
数据来源: WILEY
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9. |
Palcental pathology and prenatal diagnosis of infantile type of neuronal ceroid‐lipofuscinosis |
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American Journal of Medical Genetics,
Volume 31,
Issue S5,
1988,
Page 99-103
Juhani Rapola,
Prikko Santavuori,
Hannu Heiskala,
John M. Opitz,
James F. Reynolds,
Raju K. Pullarkat,
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摘要:
AbstractFive term placentae from pregnancies at risk of infantile neuronal ceroid‐lipofuscinosis (INCL) were studied electron‐microscopically to determine if diagnostic cytoplasmic inclusions could be detected in this tissue. In 4 placentae no inclusions were found, and the infants born from these pregnancies have developed normally, the shortest observation time being 15 months. In the fifth placenta numerous cytosomes pathognomonic of INCL were found in the amniotic cells and the endothelium of the capillaries of the chorionic villi. The diagnostic significance of this finding was confirmed by the presence of typical inclusions in the autonomic ganglion cells and other cells in a rectal mucosal biopsy specimen of this male infant at the age of 3 months. Electron microscopic study of chorionic villus biopsy specimens appears to be a promising possibility for prenatal diagnosis of I
ISSN:0148-7299
DOI:10.1002/ajmg.1320310613
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1988
数据来源: WILEY
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10. |
Kufs disease: Clinical features and forms |
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American Journal of Medical Genetics,
Volume 31,
Issue S5,
1988,
Page 105-109
Samuel F. Berkovic,
Frederick Andermann,
Eva Andermann,
Stirling Carpenter,
Leonhard Wolfe,
John M. Opitz,
James F. Reynolds,
Raju K. Pullarkat,
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PDF (311KB)
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摘要:
AbstractIn patients with an acceptable pathological diagnosis of Kufs disease, two major forms have been identified: Type A presenting as progressive myoclonus epilepsy around the age of 30, and Type B presenting in the same age range with dementia as well as cerebellar and/or extra‐pyramidal signs. In adolescence, two subgroups of neuronal ceroid‐lipofuscinosis (NCL) emerge. The first group consists of patients resembling either type A or B Kufs disease, but with earlier onset (20% of all cases). These must be distinguished form the second group of rare patients with protracted juvenile NCL presenting with early and prominent visual failure.Although Kufs disease is rare, diagnosis during life should now be possible. The advantages, techniques, and pitfalls of biopsy diagnosis are presented by Carpenter et al. [1988]. We believe that delineation of these two clinical syndromes should aid in the identification of other possible cases of Kufs disease, leading to appropriate pathological examinations of confirm the diagnosis. Knowledge of whether this clinical distinction is biologically meaningful must await the discovery of the more fundamental biochemical defe
ISSN:0148-7299
DOI:10.1002/ajmg.1320310614
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1988
数据来源: WILEY
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