Neuropsychiatry in Late Onset Tay-Sachs Disease

2020 ◽  
pp. 274-291
Author(s):  
Natan Gadoth
Keyword(s):  
Late Onset ◽  
Cerebellar Atrophy ◽  
Cerebellar Degeneration ◽  
Adult Onset ◽  
Delay In Diagnosis ◽  
Clinical Onset ◽  
Tay Sachs Disease ◽  
Hexosaminidase A ◽  
Disease Understanding ◽  
Symptoms And Signs

The neuropsychiatric adult onset Tay-Sachs disease is relatively unknown. Although clinical features and mode of presentation are variable, there are common symptoms and signs of, for example, spinocerebellar atrophy, motor neuron disease, psychiatric disorder, and neuroimaging features of cerebellar atrophy. This chapter reviews the neuropsychiatric features of Late Onset Tay-Sachs disease, discussing possible interconnections between psychosis and the cerebellum in this disease. Understanding this interlink offers some important insights into the rarity of the disease that together with the diverse clinical onset and manifestations are responsible for a marked delay in diagnosis and even misdiagnosis. Genetic testing for the activity of Hexosaminidase A, prompted by the presence of cerebellar atrophy will establish the diagnosis. In all, the combination of cerebellar degeneration together with atypical psychiatric features is in line with the ongoing assumption that the cerebellum and its thalamo-cortical outflow are responsible for psychosis, and in particular, schizophrenia.

scholarly journals Late Onset Tay-Sachs Disease in a Non-Jewish Patient: Case Report

2017 ◽  
Vol 63 (4) ◽  
pp. 199-203 ◽  
Author(s):  
Smaranda Maier ◽  
Zoltan Bajko ◽  
Anca Moţăţăianu ◽  
Adina Stoian ◽  
Bianca Şchiopu ◽  
...  
Keyword(s):  
Late Onset ◽  
Muscular Atrophy ◽  
Cerebellar Atrophy ◽  
Lysosomal Storage ◽  
Tay Sachs Disease ◽  
Cerebral Mri ◽  
Extrapyramidal Syndromes ◽  
Hexosaminidase A ◽  
Uncommon Condition

AbstractTay-Sachs disease (TSD) is a rare, inherited, autosomal rececessive lysosomal storage disease. The late-onset form is an uncommon condition among non-Jewish population.We present the case of a 32 years old male patient without Jewish origins, in whom the disease began in adolescence and was initially diagnosed with spinal muscular atrophy. He developed progressively protean neurological symptomatology, including tetraparesis, cerebellar and extrapyramidal syndromes. The diagnosis was based on the cerebral MRI, showing severe cerebellar atrophy and the determination of the Hexosaminidase A activity, revealing low level.In patients showing signs of lower motor neuron involvement, cerebellar and pyramidal signs and marked cerebellar atrophy the late-onset TSD should be suspected, and the first step in establishing the diagnosis should be to determine the serum activity of Hexosaminidase A.

Three adult-onset autosomal recessive ataxias

2020 ◽  
pp. 10.1212/CPJ.0000000000000947
Author(s):  
Jordan A. Paulus ◽  
Melinda S. Burnett
Keyword(s):  
Cerebellar Ataxia ◽  
Autosomal Recessive ◽  
Late Onset ◽  
Clinical Signs ◽  
Allelic Frequency ◽  
Adult Onset ◽  
Recessive Mutations ◽  
Autosomal Recessive Cerebellar Ataxia ◽  
Tay Sachs Disease ◽  
Cerebellar Ataxias

Purpose of reviewThis review will increase vigilance for 3 autosomal recessive ataxias that look different clinically when presenting in adulthood rather than childhood.Recent findingsA study found a high allelic frequency for repeat expansions in the RFC1 gene, a cause of Cerebellar Ataxia, Neuropathy, Vestibular Areflexia syndrome, which presents exclusively in adults. This implies that autosomal recessive etiologies of adult-onset cerebellar ataxias may be more common than previously thought.SummaryAdult-onset cerebellar ataxias are commonly caused by mutations inherited in either an autosomal dominant or X-linked pattern, as most autosomal recessive mutations cause disease at earlier ages. However, some autosomal recessive etiologies such as Late-onset Tay Sachs disease, Very Late-Onset Friedreich's Ataxia, and ARSACS emerge in adulthood, with age at presentation influencing the progression and clinical signs of the disease. This review will cover the genetics, clinical presentation, and necessary diagnostic steps required to identify 3 causes of Autosomal Recessive Cerebellar Ataxia that manifest differently in adults vs children.

scholarly journals Cerebellar atrophy and muscle weakness: late-onset Tay-Sachs disease outside Jewish populations

2016 ◽  
pp. bcr2016214634 ◽  
Author(s):  
Katharina Marie Steiner ◽  
Johannes Brenck ◽  
Sophia Goericke ◽  
Dagmar Timmann
Keyword(s):  
Muscle Weakness ◽  
Late Onset ◽  
Cerebellar Atrophy ◽  
Tay Sachs Disease ◽  
Jewish Populations

scholarly journals Distinct epigenetic signatures between adult-onset and late-onset depression

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Hirotaka Yamagata ◽  
Hiroyuki Ogihara ◽  
Koji Matsuo ◽  
Shusaku Uchida ◽  
Ayumi Kobayashi ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Bisulfite Sequencing ◽  
Clinical Symptoms ◽  
Late Onset ◽  
Adult Onset ◽  
Blood Biomarkers ◽  
Major Depressive ◽  
Genome Wide ◽  
Healthy Control ◽  
Epigenetic Signatures

AbstractThe heterogeneity of major depressive disorder (MDD) is attributed to the fact that diagnostic criteria (e.g., DSM-5) are only based on clinical symptoms. The discovery of blood biomarkers has the potential to change the diagnosis of MDD. The purpose of this study was to identify blood biomarkers of DNA methylation by strategically subtyping patients with MDD by onset age. We analyzed genome-wide DNA methylation of patients with adult-onset depression (AOD; age ≥ 50 years, age at depression onset < 50 years; N = 10) and late-onset depression (LOD; age ≥ 50 years, age at depression onset ≥ 50 years; N = 25) in comparison to that of 30 healthy subjects. The methylation profile of the AOD group was not only different from that of the LOD group but also more homogenous. Six identified methylation CpG sites were validated by pyrosequencing and amplicon bisulfite sequencing as potential markers for AOD in a second set of independent patients with AOD and healthy control subjects (N = 11). The combination of three specific methylation markers achieved the highest accuracy (sensitivity, 64%; specificity, 91%; accuracy, 77%). Taken together, our findings suggest that DNA methylation markers are more suitable for AOD than for LOD patients.

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

Article on Tay-Sachs Disease

2021 ◽  
pp. 475-478
Author(s):  
Bhawana. B. Bhende
Keyword(s):  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Single Gene ◽  
Genetic Defect ◽  
Premature Death ◽  
Nerve Cells ◽  
Tay Sachs Disease ◽  
Hexosaminidase A ◽  
Physical Abilities ◽  
The Brain

Tay–Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord..also known as GM2 gangliosidosis or Hexosaminidase A deficiency) is an autosomal recessive genetic disorder. In its most common variant known as infantile Tay-Sachs disease it presents with a relentless deterioration of mental and physical abilities which commences at 6 months of age and usually results in death by the age of four.It is caused by a genetic defect in a single gene with one defective copy of that gene inherited from each parent. The disease occurs when harmful quantities of gangliosides accumulate in the nerve cells of the brain, eventually leading to the premature death of those cells. There is currently no cure or treatment. Tay- Sachs disease is a rare disease. Other autosomal disorders such as cystic fibrosis and sickle cell anemia are far more common. TSD is an autosomal recessive genetic disorder, meaning that when both parents are carriers, there is a 25% risk of giving birth to an affected child.

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 Ataxia teleangiectasia. Az idegrendszeri érintettség prototípusa primer immundefektusokban

2018 ◽  
Vol 159 (49) ◽  
pp. 2057-2064
Author(s):  
Zoltán Liptai
Keyword(s):  
Immune Deficiency ◽  
Ataxia Telangiectasia ◽  
Late Onset ◽  
Brain Mri ◽  
Cerebellar Atrophy ◽  
Biallelic Mutation ◽  
Pathogenic Variants ◽  
Diagnostic Difficulties ◽  
Immune Deficiencies ◽  
Atm Gene

Abstract: The number of primary immune deficiencies exceeds 350, approximately a quarter of them having neurological implications. Severe central nervous system infections may occur in an even higher proportion. Beyond listing in a table of all diseases with a neurological impact, the author gives detailed analysis of one typical disorder. Ataxia telangiectasia is caused by biallelic mutation of the ATM gene resulting in genomic instability, increased cancer risk, immune deficiency and a predominantly cerebellar neurodegeneration. The most common classic form is characterized by gait and limb ataxia, oculomotor apraxia, choreoathetosis, disturbance of speech and swallowing, less often by other movement disorders. There is no remarkable cognitive deficit. Telangiectasia of the conjunctivae and skin usually appears after 6 years of age. Frequent, especially severe sino-pulmonary infections may indicate the immune deficiency present in 60 to 80% of patients, who are also prone to malignancies. The clinical course is sometimes atypical or has a late onset which results in diagnostic difficulties. Serum alpha-fetoprotein level is elevated in nearly all patients. Brain MRI shows progressive cerebellar atrophy starting at the age of 7–8 years. DNA testing of the ATM gene is necessary for the diagnosis. The detected biallelic pathogenic variants provide help for family planning and for possible gene therapies in the future. Ataxia telangiectasia has to be differentiated from a number of other disorders, some of which also belong to primary immune deficiencies. The disorder has no causal treatment at present, the patients live until their young adult ages. Orv Hetil. 2018; 159(49): 2057–2064.

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