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Book ; Online ; E-Book: Fragile X syndrome and premutation disorders

Hagerman, Randi J. / Hagerman, Paul J.

new developments and treatments : new developments and treatments

(Clinics in developmental medicine)

2020

Abstract: This book covers both molecular and clinical aspects of Fragile X Syndrome (FXS) and premutation disorders so that new targeted treatments can be understood by clinicians and parents. It covers all premutation disorders including FXTAS, FXPOI and FXAND ... ...

Author's details	Edited by Randi J. Hagerman and Paul J. Hagerman
Series title	Clinics in developmental medicine
Abstract	This book covers both molecular and clinical aspects of Fragile X Syndrome (FXS) and premutation disorders so that new targeted treatments can be understood by clinicians and parents. It covers all premutation disorders including FXTAS, FXPOI and FXAND problems. The main focus is to help clinicians to give the best care possible to patients with FXS and to understand a multidisciplinary treatment approach. Underserved populations such as babies and toddlers with FXS and mothers with the full mutation are highlighted, including the treatments that can be beneficial to them. This book also discuss fragile X associated disorders as they impact the family whose proband has FXS. A highlight of this book is the international perspective on how different cultures deal with FXS and targeted treatments.
Keywords	Fragile X syndrome ; Autism ; Pediatrics
Subject code	616.9
Language	English
Size	1 online resource (193 pages) :, illustrations
Publisher	Mac Keith Press
Publishing place	London, England
Document type	Book ; Online ; E-Book
Note	Includes index.
Remark	Zugriff für angemeldete ZB MED-Nutzerinnen und -Nutzer
ISBN	1-911612-39-5 ; 1-911612-38-7 ; 1-911612-40-9 ; 978-1-911612-37-7 ; 978-1-911612-40-7 ; 1-911612-37-9 ; 978-1-911612-39-1 ; 978-1-911612-38-4
Database	ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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Article ; Online: Fragile X syndrome.

Hagerman, Paul J / Hagerman, Randi

Current biology : CB

2021 Volume 31, Issue 6, Page(s) R273–R275

Abstract: Paul Hagerman and Randi Hagerman introduce the X-linked neurodevelopmental disorder Fragile X ...

Abstract	Paul Hagerman and Randi Hagerman introduce the X-linked neurodevelopmental disorder Fragile X syndrome (FXS) and discuss what causes this disorder and how it can be treated.
MeSH term(s)	Adult ; Ataxia/genetics ; Autistic Disorder ; Female ; Fragile X Mental Retardation Protein/chemistry ; Fragile X Mental Retardation Protein/genetics ; Fragile X Mental Retardation Protein/metabolism ; Fragile X Syndrome/genetics ; Fragile X Syndrome/therapy ; Humans ; Male ; Mutation ; Tremor/genetics
Chemical Substances	FMR1 protein, human ; Fragile X Mental Retardation Protein (139135-51-6)
Language	English
Publishing date	2021-03-18
Publishing country	England
Document type	Journal Article
ZDB-ID	1071731-6
ISSN	1879-0445 ; 0960-9822
ISSN (online)	1879-0445
ISSN	0960-9822
DOI	10.1016/j.cub.2021.01.043
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Article ; Online: Fragile X Syndrome: Lessons Learned and What New Treatment Avenues Are on the Horizon.

Hagerman, Randi J / Hagerman, Paul J

Annual review of pharmacology and toxicology

2021 Volume 62, Page(s) 365–381

Abstract: Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and the leading single-gene form of autism spectrum disorder, encompassing cognitive, behavioral, and physical forms of clinical involvement. FXS is caused by large ... ...

Abstract	Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and the leading single-gene form of autism spectrum disorder, encompassing cognitive, behavioral, and physical forms of clinical involvement. FXS is caused by large expansions of a noncoding CGG repeat (>200 repeats) in the
MeSH term(s)	Autism Spectrum Disorder/drug therapy ; Autism Spectrum Disorder/genetics ; Fragile X Mental Retardation Protein/genetics ; Fragile X Mental Retardation Protein/metabolism ; Fragile X Mental Retardation Protein/therapeutic use ; Fragile X Syndrome/drug therapy ; Fragile X Syndrome/genetics ; Fragile X Syndrome/metabolism ; Humans
Chemical Substances	FMR1 protein, human ; Fragile X Mental Retardation Protein (139135-51-6)
Language	English
Publishing date	2021-09-09
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	196587-6
ISSN	1545-4304 ; 0362-1642
ISSN (online)	1545-4304
ISSN	0362-1642
DOI	10.1146/annurev-pharmtox-052120-090147
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Article ; Online: Variation of FMRP Expression in Peripheral Blood Mononuclear Cells from Individuals with Fragile X Syndrome.

Randol, Jamie L / Kim, Kyoungmi / Ponzini, Matthew D / Tassone, Flora / Falcon, Alexandria K / Hagerman, Randi J / Hagerman, Paul J

Genes

2024 Volume 15, Issue 3

Abstract: Fragile X syndrome (FXS) is the most common heritable cause of intellectual disability and autism spectrum disorder. The syndrome is often caused by greatly reduced or absent protein expression from ... ...

Abstract	Fragile X syndrome (FXS) is the most common heritable cause of intellectual disability and autism spectrum disorder. The syndrome is often caused by greatly reduced or absent protein expression from the
MeSH term(s)	Humans ; Fragile X Syndrome/genetics ; Trinucleotide Repeat Expansion/genetics ; Leukocytes, Mononuclear/metabolism ; Autism Spectrum Disorder/genetics ; Fragile X Mental Retardation Protein/genetics ; Fragile X Mental Retardation Protein/metabolism ; RNA, Messenger/genetics ; RNA, Messenger/metabolism
Chemical Substances	Fragile X Mental Retardation Protein (139135-51-6) ; RNA, Messenger ; FMR1 protein, human
Language	English
Publishing date	2024-03-13
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes15030356
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Article ; Online: Unmethylated Mosaic Full Mutation Males without Fragile X Syndrome.

Tak, YeEun / Schneider, Andrea / Santos, Ellery / Randol, Jamie Leah / Tassone, Flora / Hagerman, Paul / Hagerman, Randi J

Genes

2024 Volume 15, Issue 3

Abstract: Fragile X syndrome (FXS) is the leading inherited cause of intellectual disability (ID) and single gene cause of autism. Although most patients with FXS and the full mutation (FM) have complete methylation of the fragile X messenger ribonucleoprotein 1 ( ...

Abstract	Fragile X syndrome (FXS) is the leading inherited cause of intellectual disability (ID) and single gene cause of autism. Although most patients with FXS and the full mutation (FM) have complete methylation of the fragile X messenger ribonucleoprotein 1 (
MeSH term(s)	Male ; Humans ; Fragile X Syndrome/genetics ; Fragile X Syndrome/complications ; DNA Methylation/genetics ; Fragile X Mental Retardation Protein/genetics ; Mutation ; Ataxia ; Tremor
Chemical Substances	Fragile X Mental Retardation Protein (139135-51-6) ; FMR1 protein, human
Language	English
Publishing date	2024-03-03
Publishing country	Switzerland
Document type	Case Reports ; Journal Article ; Review
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes15030331
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Article ; Online: Autofluorescence-based analyses of intranuclear inclusions of Fragile X-associated tremor/ataxia syndrome.

Ma, Lisa / Hagerman, Paul J

BioTechniques

2020 Volume 69, Issue 1, Page(s) 414–420

Abstract: Intranuclear inclusions present in the brains of patients with Fragile X-associated tremor/ataxia syndrome (FXTAS) have historically been difficult to study due to their location and scarcity. The recent finding that these particles autofluoresce has ... ...

Abstract	Intranuclear inclusions present in the brains of patients with Fragile X-associated tremor/ataxia syndrome (FXTAS) have historically been difficult to study due to their location and scarcity. The recent finding that these particles autofluoresce has complicated the use of immunofluorescence techniques, but also offers new opportunities for purification. We have ascertained the features of the autofluorescence, including its excitation/emission spectrum, similarities and differences compared with lipofuscin autofluorescence, and its presence/absence under various fixation, mounting and UV light exposure conditions. Immunofluorescence at various wavelengths was conducted to determine which conditions are ideal for minimizing autofluorescence confounds. We also present a technique for autofluorescence-based sorting of FXTAS inclusions using flow cytometry, which will allow researchers in the field to purify inclusions more successfully for unbiased analyses.
MeSH term(s)	Ataxia/pathology ; Brain/pathology ; Fluorescent Antibody Technique/methods ; Fragile X Syndrome/pathology ; Humans ; Intranuclear Inclusion Bodies/pathology ; Microscopy, Fluorescence/methods ; Optical Imaging/methods ; Tremor/pathology
Language	English
Publishing date	2020-06-03
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	48453-2
ISSN	1940-9818 ; 0736-6205
ISSN (online)	1940-9818
ISSN	0736-6205
DOI	10.2144/btn-2019-0144
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Article ; Online: FMR1 Protein Expression Correlates with Intelligence Quotient in Both Peripheral Blood Mononuclear Cells and Fibroblasts from Individuals with an FMR1 Mutation.

Jiraanont, Poonnada / Zafarullah, Marwa / Sulaiman, Noor / Espinal, Glenda M / Randol, Jamie L / Durbin-Johnson, Blythe / Schneider, Andrea / Hagerman, Randi J / Hagerman, Paul J / Tassone, Flora

The Journal of molecular diagnostics : JMD

2024

Abstract: Fragile X syndrome (FXS) is the most common heritable form of intellectual disability and is caused by CGG repeat expansions exceeding 200 (full mutation). Such expansions lead to hypermethylation and transcriptional silencing of the fragile X messenger ... ...

Abstract	Fragile X syndrome (FXS) is the most common heritable form of intellectual disability and is caused by CGG repeat expansions exceeding 200 (full mutation). Such expansions lead to hypermethylation and transcriptional silencing of the fragile X messenger ribonucleoprotein 1 (FMR1) gene. As a consequence, little or no FMR1 protein (FMRP) is produced; absence of the protein, which normally is responsible for neuronal development and maintenance, causes the syndrome. Previous studies have demonstrated the causal relationship between FMRP levels and cognitive abilities in peripheral blood mononuclear cells (PBMCs) and dermal fibroblast cell lines of patients with FXS. However, it is arguable whether PBMCs or fibroblasts would be the preferred surrogate for measuring molecular markers, particularly FMRP, to represent the cognitive impairment, a core symptom of FXS. To address this concern, CGG repeats, methylation status, FMR1 mRNA, and FMRP levels were measured in both PBMCs and fibroblasts derived from 66 individuals. The findings indicated a strong association between FMR1 mRNA expression levels and CGG repeat numbers in PBMCs of premutation males after correcting for methylation status. Moreover, FMRP expression levels from both PBMCs and fibroblasts of male participants with a hypermethylated full mutation and with mosaicism demonstrated significant association between the intelligence quotient levels and FMRP levels, suggesting that PBMCs may be preferable for FXS clinical studies, because of their greater accessibility.
Language	English
Publishing date	2024-03-22
Publishing country	United States
Document type	Journal Article
ZDB-ID	2000060-1
ISSN	1943-7811 ; 1525-1578
ISSN (online)	1943-7811
ISSN	1525-1578
DOI	10.1016/j.jmoldx.2024.02.007
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Article ; Online: Fragile X-associated tremor/ataxia syndrome - features, mechanisms and management.

Hagerman, Randi J / Hagerman, Paul

Nature reviews. Neurology

2016 Volume 12, Issue 7, Page(s) 403–412

Abstract: Many physicians are unaware of the many phenotypes associated with the fragile X premutation, an expansion in the 5' untranslated region of the fragile X mental retardation 1 (FMR1) gene that consists of 55-200 CGG repeats. The most severe of these ... ...

Abstract	Many physicians are unaware of the many phenotypes associated with the fragile X premutation, an expansion in the 5' untranslated region of the fragile X mental retardation 1 (FMR1) gene that consists of 55-200 CGG repeats. The most severe of these phenotypes is fragile X-associated tremor/ataxia syndrome (FXTAS), which occurs in the majority of ageing male premutation carriers but in fewer than 20% of ageing women with the premutation. The prevalence of the premutation is 1 in 150-300 females, and 1 in 400-850 males, so physicians are likely to see people affected by FXTAS. Fragile X DNA testing is broadly available in the Western world. The clinical phenotype of FXTAS at presentation can vary and includes intention tremor, cerebellar ataxia, neuropathic pain, memory and/or executive function deficits, parkinsonian features, and psychological disorders, such as depression, anxiety and/or apathy. FXTAS causes brain atrophy and white matter disease, usually in the middle cerebellar peduncles, the periventricular area, and the splenium and/or genu of the corpus callosum. Here, we review the complexities involved in the clinical management of FXTAS and consider how targeted treatment for these clinical features of FXTAS will result from advances in our understanding of the molecular mechanisms that underlie this neurodegenerative disorder. Such targeted approaches should also be more broadly applicable to earlier forms of clinical involvement among premutation carriers.
MeSH term(s)	Ataxia/genetics ; Ataxia/pathology ; Ataxia/physiopathology ; Ataxia/therapy ; Fragile X Syndrome/genetics ; Fragile X Syndrome/pathology ; Fragile X Syndrome/physiopathology ; Fragile X Syndrome/therapy ; Humans ; Tremor/genetics ; Tremor/pathology ; Tremor/physiopathology ; Tremor/therapy
Language	English
Publishing date	2016-06-24
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	2491514-2
ISSN	1759-4766 ; 1759-4758
ISSN (online)	1759-4766
ISSN	1759-4758
DOI	10.1038/nrneurol.2016.82
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Article ; Online: Autofluorescence-based analyses of intranuclear inclusions of Fragile X-associated tremor/ataxia syndrome

Lisa Ma / Paul J Hagerman

BioTechniques, Vol 69, Iss 1, Pp 57-

2020 Volume 63

Abstract	Intranuclear inclusions present in the brains of patients with Fragile X-associated tremor/ataxia syndrome (FXTAS) have historically been difficult to study due to their location and scarcity. The recent finding that these particles autofluoresce has complicated the use of immunofluorescence techniques, but also offers new opportunities for purification. We have ascertained the features of the autofluorescence, including its excitation/emission spectrum, similarities and differences compared with lipofuscin autofluorescence, and its presence/absence under various fixation, mounting and UV light exposure conditions. Immunofluorescence at various wavelengths was conducted to determine which conditions are ideal for minimizing autofluorescence confounds. We also present a technique for autofluorescence-based sorting of FXTAS inclusions using flow cytometry, which will allow researchers in the field to purify inclusions more successfully for unbiased analyses.
Keywords	Biology (General) ; QH301-705.5
Language	English
Publishing date	2020-07-01T00:00:00Z
Publisher	Future Science Ltd
Document type	Article ; Online
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Article ; Online: Fragile X-associated tremor/ataxia syndrome.

Hagerman, Paul J / Hagerman, Randi J

Annals of the New York Academy of Sciences

2015 Volume 1338, Page(s) 58–70

Abstract: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder that affects some but not all carriers of small, noncoding CGG-repeat expansions (55-200 repeats; premutation) within the fragile X gene (FMR1). Principal ... ...

Abstract	Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder that affects some but not all carriers of small, noncoding CGG-repeat expansions (55-200 repeats; premutation) within the fragile X gene (FMR1). Principal features of FXTAS include intention tremor, cerebellar ataxia, Parkinsonism, memory and executive function deficits, autonomic dysfunction, brain atrophy with white matter disease, and cognitive decline. Although FXTAS was originally considered to be confined to the premutation range, rare individuals with a gray zone (45-54 repeats) or an unmethylated full mutation (>200 repeats) allele have now been described, the constant feature of the disorder remaining the requirement for FMR1 expression, in contradistinction to the gene silencing mechanism of fragile X syndrome. Although transcriptional activity is required for FXTAS pathogenesis, the specific trigger(s) for FXTAS pathogenesis remains elusive, highlighting the need for more research in this area. This need is underscored by recent neuroimaging findings of changes in the central nervous system that consistently appear well before the onset of clinical symptoms, thus creating an opportunity to delay or prevent the appearance of FXTAS.
MeSH term(s)	Animals ; Ataxia/diagnosis ; Ataxia/genetics ; Ataxia/physiopathology ; Ataxia/therapy ; Diagnosis, Differential ; Disease Models, Animal ; Fragile X Mental Retardation Protein/genetics ; Fragile X Syndrome/diagnosis ; Fragile X Syndrome/genetics ; Fragile X Syndrome/physiopathology ; Fragile X Syndrome/therapy ; Humans ; Nematoda ; Tremor/diagnosis ; Tremor/genetics ; Tremor/physiopathology ; Tremor/therapy ; Trinucleotide Repeats
Chemical Substances	FMR1 protein, human ; Fragile X Mental Retardation Protein (139135-51-6)
Language	English
Publishing date	2015-01-26
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Review
ZDB-ID	211003-9
ISSN	1749-6632 ; 0077-8923
ISSN (online)	1749-6632
ISSN	0077-8923
DOI	10.1111/nyas.12693
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