scholarly journals Late‐Onset Tay‐Sachs Disease in an Irish Family

2020 ◽  
Vol 8 (1) ◽  
pp. 106-110
Author(s):  
Stela Lefter ◽  
Olivia O' Mahony ◽  
Brian Sweeney ◽  
Aisling M. Ryan
Keyword(s):  
Late Onset ◽  
Irish Family ◽  
Tay Sachs Disease

A case of infantile Tay-Sachs disease with late onset spasms

2021 ◽  
Author(s):  
Naohiro Yamamoto ◽  
Ichiro Kuki ◽  
Shizuka Nagase ◽  
Takeshi Inoue ◽  
Megumi Nukui ◽  
...  
Keyword(s):  
Late Onset ◽  
Tay Sachs Disease

G.P.116 Late onset Muscle Mitochondrial Disease due to a p.R357P Twinkle mutation in an Irish family

2012 ◽  
Vol 22 (9-10) ◽  
pp. 890
Author(s):  
C. Keohane ◽  
H. El Sadiq ◽  
R.W. Taylor ◽  
N. Bermingham ◽  
A. Ryan
Keyword(s):  
Mitochondrial Disease ◽  
Late Onset ◽  
Irish Family

Serial changes of T1-, T2-weighted MR imaging and MR spectroscopy in Tay-Sachs disease with late onset spasms.

2021 ◽  
Author(s):  
Shunji Mugikura ◽  
Naoko Mori ◽  
Shoki Takahashi
Keyword(s):  
Mr Imaging ◽  
Mr Spectroscopy ◽  
Late Onset ◽  
Tay Sachs Disease

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.

Late-onset Tay-Sachs disease: Adverse effects of medications and implications for treatment

Neurology ◽  
2006 ◽  
Vol 67 (5) ◽  
pp. 875-877 ◽  
Author(s):  
B. E. Shapiro ◽  
S. Hatters-Friedman ◽  
J. A. Fernandes-Filho ◽  
K. Anthony ◽  
M. R. Natowicz
Keyword(s):  
Adverse Effects ◽  
Late Onset ◽  
Tay Sachs Disease

scholarly journals Molecular analysis of theHEXAgene in Italian patients with infantile and late Onset Tay-Sachs disease: detection of fourteen novel alleles

2005 ◽  
Vol 26 (3) ◽  
pp. 282-282 ◽  
Author(s):  
Anna Lisa E. Montalvo ◽  
Mirella Filocamo ◽  
Kristian Vlahoviček ◽  
Andrea Dardis ◽  
Susanna Lualdi ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Late Onset ◽  
Disease Detection ◽  
Tay Sachs Disease ◽  
Novel Alleles

The Natural History of Late Onset Tay-Sachs Disease

2012 ◽  
Vol 105 (2) ◽  
pp. S67
Author(s):  
Padmaja Yerramilli-Rao ◽  
Ourania Giannikopoulos ◽  
Kim Kublis ◽  
Jessica Pan ◽  
Florian Eichler
Keyword(s):  
Natural History ◽  
Late Onset ◽  
Tay Sachs Disease ◽  
History Of

Paranoid delusion as lead symptom in two siblings with late-onset Tay–Sachs disease and a novel mutation in the HEXA gene

2015 ◽  
Vol 262 (4) ◽  
pp. 1072-1073 ◽  
Author(s):  
Claudia Stendel ◽  
Constanze Gallenmüller ◽  
Katrin Peters ◽  
Friederike Bürger ◽  
Gwendolyn Gramer ◽  
...  
Keyword(s):  
Late Onset ◽  
Novel Mutation ◽  
Tay Sachs Disease ◽  
Hexa Gene ◽  
Paranoid Delusion

Retrospective survey of late onset Tay-Sachs disease

2016 ◽  
Vol 117 (2) ◽  
pp. S64-S65
Author(s):  
A. Amel Karaa ◽  
Elizabeth Haxton ◽  
Padmaja Yerramilli-Rao ◽  
Ourania Giannikopoulos ◽  
Lauren Pollak ◽  
...  
Keyword(s):  
Late Onset ◽  
Retrospective Survey ◽  
Tay Sachs Disease
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