scholarly journals Neuronal Ceroid-lipofuscinosis with prominent chorea and without visual manifestations: a case report

1979 ◽  
Vol 37 (1) ◽  
pp. 61-70 ◽  
Author(s):  
Luciano de Souza Queiroz ◽  
Joaquim Nogueira da Cruz Neto
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Paraffin Sections ◽  
Progressive Dementia ◽  
Ceroid Lipofuscinosis ◽  
Sudan Black B ◽  
Cytoplasmic Bodies ◽  
Tay Sachs Disease ◽  
Zebra Bodies ◽  
Cerebral Biopsy

A case of neuronal ceroid-lipofuscinosis (NCL) is reported in a 11-year-old girl, whose main symptoms were progressive dementia since the age of 4 years and choreic movements since age 10. Seizures, myoclonus and visual deterioration were absent and optic fundi were normal. A cerebral biopsy disclosed two basic types of stored substance in the cytoplasm of neurons: a) severely balloned nerve cells in cortical layers HI and V contained a non-autofluorescent material, which stained with PAS and Sudan Black B in frozen, but not in paraffin sections; ultrastructurally, these neurons showed abundant corpuscles similar to the membranous cytoplasmic bodies of Tay-Sachs disease and, in smaller amounts, also zebra bodies; b) slightly distended or non-distended neurons in all layers contained lipopigment granules, which were autofluorescent, PAS-positive and sudanophil in both frozen and paraffin sections; their ultrastructure was closely comparable to that of lipofuscin. Similar bodies were found in the swollen segments of axons and in a few astrocytes and endothelial cells. The histochemical and ultrastructural demonstration of large amounts of lipopigments allows a presumptive classification of the case as NCL. However, the presence of involuntary movements, the absence of visual disturbances and the unusual ultrastructural features place the patient into a small heterogeneous group within the NCL. A better classification of such unique instances of the disease must await elucidation of the basic enzymatic defects.

scholarly journals Neuronal ceroid-lipofuscinosis, a type of amaurotic family idiocy: clinical and pathological study of four cases

1974 ◽  
Vol 32 (1) ◽  
pp. 1-14 ◽  
Author(s):  
Luciano de Souza Queiroz ◽  
Joaquim N. da Cruz Neto ◽  
J. Lopes de Faria
Keyword(s):  
Late Onset ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Cerebral Atrophy ◽  
Cell Loss ◽  
Storage Material ◽  
Brazilian Literature ◽  
Ceroid Lipofuscinosis ◽  
Tay Sachs Disease ◽  
Gerontological Research

Neuronal ceroid-lipofuscinosis (NCL) is a recent term, proposed for acurate designation of the late-onset types of Amaurotic Family Idiocy (AFI). Histopathology shows ubiquitous intraneuronal accumulation of lipopigments, being the most important factor for characterization of the entity at present time. Biochemical changes and pathogenesis are obscure. NCL is in contrast to the infantile type of AFI (Tay-Sachs disease), in which intraneuronal accumulation of gangliosides (sphingolipids) is due to the well known deficiency of a lysosomal enzyme. The authors report on four cases of NCL, two brothers of the late infantile (Jansky-Bielschowsky) type and a brother and a sister of the juvenile (Spielmeyer-Sjögren) type. One autopsy and three cortical biopsies revealed moderate to severe distention of the neurons by lipopigment, with nerve cell loss, gliosis and cerebral atrophy. Lipopigment was also increased in liver, heart and spleen. The patients were the first in Brazilian literature in whom the storage material was identified as lipopigment by histochemical methods. A brief summary of the clinical features of NCL is presented, and relevant problems are discussed, concerning interpretation of the nature of the storage material, and significance of the disease for gerontological research.

Adult neuronal ceroid lipofuscinosis with clinical findings consistent with a butterfly glioma

1998 ◽  
Vol 88 (2) ◽  
pp. 314-318 ◽  
Author(s):  
Stefanie Hammersen ◽  
Mario Brock ◽  
Jorge Cervós-Navarro
Keyword(s):  
Muscular Atrophy ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Cerebral Atrophy ◽  
Brain Biopsy ◽  
Progressive Dementia ◽  
Ataxic Gait ◽  
Content Type ◽  
Presenting Symptoms ◽  
Ceroid Lipofuscinosis ◽  
Kufs Disease

✓ The authors report a case of neuronal ceroid lipofuscinosis (Kufs' disease) confirmed by stereotactically obtained brain biopsy findings and initially diagnosed as a butterfly glioma. The presenting symptoms in the 64-year-old patient were mental alterations with progressive dementia, followed by muscular atrophy and myoclonia with distal preponderance. The mild initial disturbances of coordination increased, and the patient developed a markedly ataxic gait. Computerized tomography (CT) scanning and magnetic resonance imaging revealed generalized cerebral atrophy and a bifrontal space-occupying lesion involving the callosum. The original “clearcut” diagnosis of glioblastoma multiforme, based on CT scans, was unexpectedly disproved by examination of stereotactically obtained brain biopsy specimens, which revealed a neuronal ceroid lipofuscinosis (Kufs' disease). To the authors' knowledge, this is the first report of a case presenting with both diffuse brain atrophy and localized accumulation of neuronal lipofuscin, mimicking a mass lesion on radiological studies.

NEURONAL CEROID-LIPOFUSCINOSIS (BATTEN'S DISEASE): RELATIONSHIP TO AMAUROTIC FAMILY IDIOCY?

PEDIATRICS ◽  
1969 ◽  
Vol 44 (4) ◽  
pp. 570-583
Author(s):  
Wolfgang Zeman ◽  
Paul Dyken
Keyword(s):  
Clinical Data ◽  
Neuronal Ceroid Lipofuscinosis ◽  
The Other ◽  
Gm2 Gangliosidosis ◽  
Gm1 Gangliosidosis ◽  
Ceroid Lipofuscinosis ◽  
Intractable Seizures ◽  
Tay Sachs Disease ◽  
Batten's Disease ◽  
Ceroid Lipofuscin

From the conditions generically classified as amaurotic familial idiocy, two distinctly different groups have emerged. One is characterized by grossly abnormal profiles for cerebral sphingolipids and consists of GM1-gangliosidosis and GM2-gangliosidosis or Tay-Sachs disease. The other group is composed of cases with normal sphingolipid profiles, but with neuronal accumulation of lipopigments of the ceroid/lipofuscin type, designated as neuronal ceroid-lipofuscinosis (NCL) or Batten's disease. Clinical data on 26 patients with this disorder reveal the course and symptomatology to be variable, but pathomorphologic and biochemical findings are reasonably constant. The course of the disorder is directly influenced by the presence or absence of intractable seizures.

scholarly journals Adult-Onset Neuronal Ceroid Lipofuscinosis in a Shikoku Inu

2021 ◽  
Vol 8 (10) ◽  
pp. 227
Author(s):  
Shinji Tamura ◽  
Masaya Tsuboi ◽  
Naotami Ueoka ◽  
Shoko Doi ◽  
Yumiko Tamura ◽  
...  
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Cervical Spinal Cord ◽  
Periodic Acid ◽  
Electron Microscopic Examination ◽  
Adult Onset ◽  
Electron Microscopic ◽  
Periodic Acid Schiff ◽  
Ceroid Lipofuscinosis ◽  
Gait Abnormality ◽  
Sudan Black B

A two-year-and-eleven-month-old male Shikoku Inu was referred for evaluation of progressive gait abnormality that had begun three months prior. Neurological examination revealed ventral flexion of the neck, a wide-based stance in the hindlimb, wide excursions of the head from side to side, tremor in all four limbs, hypermetria in all four limbs, proprioceptive deficits in all four limbs, reduced patellar reflex in both hindlimbs, and postural vertical nystagmus. Later, behavioral and cognitive dysfunction, ataxia, and visual deficits slowly progressed. Magnetic resonance imaging revealed symmetrical progressive atrophy of the whole brain and cervical spinal cord. Bilateral retinal degeneration was observed, and both flush and flicker electroretinograms were bilaterally non-recordable at the age of five years and eight months, and the dog was euthanized. Histopathologically, faint-to-moderate deposition of light-brown pigments was frequently observed in the cytoplasm of neurons throughout the cerebrum, cerebellum, and nuclei of the brainstem. The pigments were positive for Luxol fast blue, periodic acid–Schiff, and Sudan black B, and exhibited autofluorescence. Electron microscopic examination revealed the accumulation of membranous material deposition in the neuronal cytoplasm. Small foci of pigment-containing macrophages were frequently observed around the capillary vessels. Based on these clinical and pathological findings, the animal was diagnosed with adult-onset neuronal ceroid lipofuscinosis.

Clinical classification of neuronal ceroid-lipofuscinosis subtypes

1988 ◽  
Vol 31 (S5) ◽  
pp. 47-58 ◽  
Author(s):  
Rose-Mary N. Boustany ◽  
Joseph Alroy ◽  
Edwin H. Kolodny ◽  
John M. Opitz ◽  
James F. Reynolds ◽  
...  
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Clinical Classification ◽  
Ceroid Lipofuscinosis

Neuronal Ceroid Lipofuscinosis: The Increasing Spectrum of an Old Disease

2014 ◽  
Vol 14 (8) ◽  
pp. 1043-1051 ◽  
Author(s):  
A. Simonati ◽  
F. Pezzini ◽  
F. Moro ◽  
F.M. Santorelli
Keyword(s):  
Neuronal Ceroid Lipofuscinosis ◽  
Ceroid Lipofuscinosis

scholarly journals Exploring dementia and neuronal ceroid lipofuscinosis genes in 100 FTD-like patients from 6 towns and rural villages on the Adriatic Sea cost of Apulia

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Celeste Sassi ◽  
Rosa Capozzo ◽  
Monia Hammer ◽  
Chiara Zecca ◽  
Monica Federoff ◽  
...  
Keyword(s):  
Late Onset ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Primary Progressive Aphasia ◽  
Complex Spectrum ◽  
Site Mutation ◽  
Progressive Aphasia ◽  
Pathogenic Mechanisms ◽  
Primary Progressive ◽  
Ceroid Lipofuscinosis ◽  
Sporadic Cases

AbstractFrontotemporal dementia (FTD) refers to a complex spectrum of clinically and genetically heterogeneous disorders. Although fully penetrant mutations in several genes have been identified and can explain the pathogenic mechanisms underlying a great portion of the Mendelian forms of the disease, still a significant number of families and sporadic cases remains genetically unsolved. We performed whole exome sequencing in 100 patients with a late-onset and heterogeneous FTD-like clinical phenotype from Apulia and screened mendelian dementia and neuronal ceroid lipofuscinosis genes. We identified a nonsense mutation in SORL1 VPS domain (p.R744X), in 2 siblings displaying AD with severe language problems and primary progressive aphasia and a near splice-site mutation in CLCN6 (p.S116P) segregating with an heterogeneous phenotype, ranging from behavioural FTD to FTD with memory onset and to the logopenic variant of primary progressive aphasia in one family. Moreover 2 sporadic cases with behavioural FTD carried heterozygous mutations in the CSF1R Tyrosin kinase flanking regions (p.E573K and p.R549H). By contrast, only a minority of patients carried pathogenic C9orf72 repeat expansions (1%) and likely moderately pathogenic variants in GRN (p.C105Y, p.C389fs and p.C139R) (3%). In concert with recent studies, our findings support a common pathogenic mechanisms between FTD and neuronal ceroid lipofuscinosis and suggests that neuronal ceroid lipofuscinosis genes should be investigated also in dementia patients with predominant frontal symptoms and language impairments.

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