HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Fragile X Syndrome (Martin Bell Syndrome)

A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)
Also Known As:
Martin Bell Syndrome; Syndrome, FRAXA; Syndrome, Fragile X; FRAXA Syndrome; FRAXE Syndrome; Fra(X) Syndrome; Fragile X Mental Retardation Syndrome; Fragile X-F Mental Retardation Syndrome; Mar (X) Syndrome; Marker X Syndrome; Mental Retardation, X-Linked, Associated With Fragile Site Fraxe; Mental Retardation, X-Linked, Associated With Marxq28; X-Linked Mental Retardation and Macroorchidism; FRAXA Syndromes; FRAXE Syndromes; Fragile X Syndromes; Marker X Syndromes; Syndrome, FRAXE; Syndrome, Marker X; Syndrome, Martin-Bell; Syndromes, FRAXA; Syndromes, FRAXE; Syndromes, Fragile X; Syndromes, Marker X; X Linked Mental Retardation and Macroorchidism; Martin-Bell Syndrome
Networked: 1664 relevant articles (49 outcomes, 142 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Parkinson Disease (Parkinson's Disease)
2. Alzheimer Disease (Alzheimer's Disease)
3. Autism Spectrum Disorder
4. Autistic Disorder (Autism)
5. Dyskinesias (Dyskinesia)

Experts

1. Tassone, Flora: 42 articles (12/2020 - 12/2003)
2. Hagerman, Randi J: 36 articles (12/2020 - 01/2004)
3. Bagni, Claudia: 32 articles (01/2021 - 02/2003)
4. Bassell, Gary J: 30 articles (08/2022 - 03/2004)
5. Hagerman, Randi: 29 articles (12/2021 - 04/2006)
6. Berry-Kravis, Elizabeth: 28 articles (01/2022 - 10/2006)
7. Willemsen, Rob: 28 articles (11/2018 - 03/2002)
8. Warren, Stephen T: 25 articles (10/2021 - 05/2002)
9. Bardoni, Barbara: 24 articles (01/2022 - 06/2002)
10. Erickson, Craig A: 22 articles (01/2022 - 12/2009)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Fragile X Syndrome:
1. LithiumIBA
2. Metformin (Glucophage)FDA LinkGeneric
3. Levodopa (L Dopa)FDA LinkGeneric
11/01/2013 - "Given positive results in proof-of-concept studies in humans for certain indications such as levodopa-induced dyskinesia in Parkinson's disease, fragile X Syndrome, gastroesophageal reflux disease, migraine and anxiety, and the soaring chemical diversity among the mGlu5-negative allosteric modulators, there is reason to believe that a drug will emerge from this therapeutic class in the near future. "
04/01/2013 - "Potential roles have been established for mGlu5 NAMs in the treatment of diseases such as pain, anxiety, gastroesophageal reflux disease (GERD), Parkinson's disease levodopa-induced dyskinesia (PD-LID), fragile X syndrome (FXS), autism, addiction, and depression. "
11/01/2014 - "The efficacy of AFQ056/mavoglurant in humans has been assessed in L-dopa induced dyskinesia in Parkinson's disease and Fragile X syndrome in proof of principle clinical studies."
02/12/2015 - "Negative allosteric modulators (NAMs) of metabotropic glutamate receptor 5 (mGlu5) have potential for the treatment of psychiatric diseases including depression, fragile X syndrome (FXS), anxiety, obsessive-compulsive disorders, and levodopa induced dyskinesia in Parkinson's disease. "
11/01/2013 - "Negative allosteric modulators of metabotropic glutamate receptor 5 (mGlu5) have been actively pursued for over a decade as a potential treatment for anxiety, depression, substance abuse, pain, levodopa-induced dyskinesia in Parkinson's disease, fragile X Syndrome, autism, gastroesophageal reflux disease and lower-urinary-tract disorders. "
4. Genetic Markers (Genetic Marker)IBA
5. MelatoninIBA
6. CannabidiolIBA
7. Protein Isoforms (Isoforms)IBA
8. Glycogen Synthase (Synthase I)IBA
9. Phosphatidylinositols (Phosphatidylinositol)IBA
10. SW-100IBA

Therapies and Procedures

1. Therapeutics
2. Cognitive Training
3. Precision Medicine
4. Drug Therapy (Chemotherapy)
5. Ketogenic Diet