Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain.

Bael, M van; Natowicz, Marvin R.; Tomczak, Jerzy; Grebner, Eugene E.; Prence, Elizabeth M.

doi:10.1136/jmg.33.10.829

Cited by 16 publications

(5 citation statements)

References 18 publications

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“…The GM2 gangliosidoses have a wide ethnic distribution with an estimated birth prevalence in the order of one in 200 000 and 1 in 385 000 for TSD and Sandhoff disease respectively 9–11 . Historically, TSD is overrepresented in Jews, with a carrier frequency of one in 30 individuals of Ashkenazi (eastern European) Jewish descent; 8,12,13 increased disease frequency is also seen within Irish Americans, Canadians from south‐eastern Quebec, and the Cajun people of Louisiana 14–17 . Ethnic associations are less well known in Sandhoff disease, this disease being more common in several communities in which founder mutations of the HEXB gene occur at a high frequency 16–20 …”

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confidence: 99%

GM2 gangliosidosis in a UK study of children with progressive neurodegeneration: 73 cases reviewed

Smith¹,

Winstone²,

Stellitano³

et al. 2011

Develop Med Child Neuro

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Aim To report the demographic, phenotypic, and time‐to‐diagnosis characteristics of children with GM2 gangliosidosis referred to the UK study of Progressive Intellectual and Neurological Deterioration. Method Case notification is made via monthly surveillance card, administered by the British Paediatric Surveillance Unit to all UK‐based paediatricians; children with GM2 gangliosidosis were identified from cases satisfying inclusion in the UK study of Progressive Intellectual and Neurological Deterioration and analysed according to phenotypic and biochemical categories. Results Between May 1997 and January 2010, 73 individuals with GM2 gangliosidoses were reported: 40 with Tay–Sachs disease, 31 with Sandhoff disease, and two with GM2 activator protein deficiency. Together they account for 6% (73/1164) of all diagnosed cases of progressive intellectual and neurological deterioration. The majority (62/73) were sporadic index cases with no family history. Children of Pakistani ancestry were overrepresented in all subtypes, particularly juvenile Sandhoff disease, accounting for 10 of 11 notified cases. Infantile‐onset variants predominated (55/73); the mean age at onset of symptoms was 6.2 and 4.7 months for infantile‐onset Tay–Sachs and Sandhoff disease respectively, and 26.2 and 34.7 months for the corresponding juvenile‐onset variants. Time to diagnosis averaged 7.4 months and 28.0 months in infantile‐ and juvenile‐onset disease respectively. Interpretation GM2 gangliosidosis is a significant cause of childhood neurodegenerative disease; timely diagnosis relies upon improved clinical recognition, which may be increasingly important as specific therapies become available. There is a potential benefit from the introduction of screening programmes for high‐risk ethnic groups.

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mentioning

confidence: 99%

GM2 gangliosidosis in a UK study of children with progressive neurodegeneration: 73 cases reviewed

Smith¹,

Winstone²,

Stellitano³

et al. 2011

Develop Med Child Neuro

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“…Thus, it is clear that the enzyme assay is a more sensitive screening test for TSD heterozygosity in persons of French Canadian background from Massachusetts, as well as in other non-Jewish populations. 10 In addition, the simultaneous screening for TSD and Sandhoff disease heterozygosity is another advantage of the hex enzyme assay over mutation analysis for routine TSD carrier testing in this population.…”

Section: Discussionmentioning

confidence: 99%

Heterozygosity for Tay-Sachs and Sandhoff Diseases among Massachusetts Residents with French Canadian Background

et al. 1997

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Simultaneous screening for TSD and Sandhoff disease heterozygosity by assay of beta hexosaminidases A and B activities provides a possible method for use with subjects of French Canadian background. The relevance of some of the novel mutations identified in this group needs further study. However, the comparatively high combined frequency of TSD and Sandhoff disease heterozygosity indicates a need for discussion regarding the appropriateness of carrier testing for these disorders for persons of French Canadian background in Massachusetts.

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“…Epidemiological analysis has also found increased carrier frequency among individuals with Irish background: anywhere from 1:192 to 1:52 carry deleterious mutations [Van Bael et al, 1996]. A study published in Genetic Tests in 2004 screened hundreds of Americans with Irish, English, Scottish, and Italian ancestry with biochemical testing and no known family history of TSD [Branda et al, 2004].…”

Section: Ethnic‐based Screening: From the Jewish Panel To Hemoglobinomentioning

confidence: 99%

From new screens to discovered genes: The successful past and promising present of single gene disorders

Roe

Shur

2007

American J of Med Genetics Pt C

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Prenatal screening for single gene disorders, which include over 10,000 diverse diseases, presents a great challenge. The major approach to identifying high‐risk groups for diseases, from Tay Sachs Disease to sickle cell disease, has historically centered on ethnic‐based screening. A major concern in an ethnic‐based approach is that carriers belonging to less‐traditionally considered populations will be missed. In the United States, the paradigm for a more modern pan‐ethnic approach has become exemplified by cystic fibrosis (CF), although considerable debate about future directions remains. CF screening brings several additional issues to the forefront, including that the largest molecular prenatal genetic screening program is based on a single gene disorder that is not necessarily severely disabling. On the other hand, several devastating disorders where screening is indeed available remain relatively inaccessible to prenatal patients in the general population. Future candidates to consider for broad‐based screening programs include spinal muscular atrophy (SMA), fragile X, and inborn errors of metabolism. As prenatal screening for single gene disorders expands, issues to consider include inclusion criteria and risk versus benefit. © 2007 Wiley‐Liss, Inc.

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Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain.

Abstract: We performed a genetic epidemiological analysis of American non-Jewish people with ancestry from Ireland or Great Britain with regard to heterozygosity for Tay

Cited by 16 publications

References 18 publications

GM2 gangliosidosis in a UK study of children with progressive neurodegeneration: 73 cases reviewed

GM2 gangliosidosis in a UK study of children with progressive neurodegeneration: 73 cases reviewed

Heterozygosity for Tay-Sachs and Sandhoff Diseases among Massachusetts Residents with French Canadian Background

From new screens to discovered genes: The successful past and promising present of single gene disorders

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