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. MENTAL RETARDATION 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; FRAXA Syndromes; FRAXE Syndromes; Fragile X Syndromes; Syndrome, FRAXE; Syndrome, Martin-Bell; Syndromes, FRAXA; Syndromes, FRAXE; Syndromes, Fragile X; Martin-Bell Syndrome
Networked: 935 relevant articles (24 outcomes, 82 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

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


1. Bassell, Gary J: 22 articles (11/2015 - 03/2004)
2. Warren, Stephen T: 21 articles (03/2015 - 05/2002)
3. Tassone, Flora: 20 articles (07/2015 - 01/2004)
4. Hagerman, Randi J: 16 articles (11/2014 - 01/2004)
5. Jin, Peng: 16 articles (10/2014 - 03/2003)
6. Willemsen, Rob: 16 articles (03/2014 - 05/2002)
7. Oostra, Ben A: 16 articles (05/2012 - 05/2002)
8. Bagni, Claudia: 15 articles (09/2015 - 02/2003)
9. Neri, Giovanni: 14 articles (03/2014 - 04/2004)
10. Greenough, William T: 14 articles (03/2011 - 05/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Fragile X Syndrome:
1. LithiumIBA
2. Levodopa (L Dopa)FDA LinkGeneric
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."
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. "
01/01/2016 - "Negative allosteric modulators (NAMs) of metabotropic glutamate receptor subtype 5 (mGlu5) have potential applications in the treatment of fragile X syndrome, levodopa-induced dyskinesia in Parkinson disease, Alzheimer disease, addiction, and anxiety; however, clinical and preclinical studies raise concerns that complete blockade of mGlu5 and inverse agonist activity of current mGlu5 NAMs contribute to adverse effects that limit the therapeutic use of these compounds. "
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. "
3. MelatoninIBA
4. Glycogen Synthase (Synthase I)IBA
5. DNA (Deoxyribonucleic Acid)IBA
6. Minocycline (Cyclops)FDA LinkGeneric
7. BaclofenFDA LinkGeneric
8. alpha- Amino- 3- hydroxy- 5- methyl- 4- isoxazolepropionic Acid (AMPA)IBA
9. Psychotropic Drugs (Psychoactive Drugs)IBA
10. Methotrexate (Mexate)FDA LinkGeneric

Therapies and Procedures

1. Therapeutics
2. Individualized Medicine
3. Occupational Therapy (Therapy, Occupational)
4. Anterior Temporal Lobectomy
5. Investigational Therapies (Experimental Therapy)