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Gordon Holmes Syndrome

Gordon-Holmes Syndrome


  • We describe a patient with Gordon Holmes syndrome presenting with a combination of hypogonadotropic hypogonadism, ataxia and progressive cognitive decline, with distinct MRI brain findings.[ncbi.nlm.nih.gov]
  • However, it does not present in isolation, but as part of a broad multisystemic neurodegenerative process.[ncbi.nlm.nih.gov]
  • The patient of family 1 presented severe dementia, spastic tetraparesis and hypogonadism, next to cerebellar ataxia.[mdsabstracts.org]
  • We developed a T246M CHIP mouse model of GHS and present preliminary data consistent with our hypothesis that T246M CHIP functions as a dominant negative protein causing GHS.[fasebj.org]
Male Hypogonadism
  • In 2012, the European Association of Urology published a guideline on male hypogonadism that was developed by European genitourinary surgeons. 28 The levels of evidence were graded in accordance with a rating scheme adapted from the Oxford Centre for[cmaj.ca]
Muscular Atrophy
  • IF 4.259 Narayanan G, Sheila M, Chai J, Stanton LW.Generation of sibling-matched induced pluripotent stem cell lines from spinal and bulbar muscular atrophy patients.Stem Cell Res.2017 Apr;20:30-33. doi: 10.1016/j.scr.2017.02.005. Epub 2017 Feb 16.[nni.com.sg]
  • This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia[ncbi.nlm.nih.gov]
  • Low blood pressure Orthostatic (postural) hypotension Other disorders we provide care for include : Acute/subacute dysautonomia Amyloidosis (familial and primary) Anihidrosis Congenital autonomic failure Diabetes mellitus Guillain-Barré syndrome Holmes-Adie[uclh.nhs.uk]


  • Access the comprehensive, expert clinical guidance you need to recognize the clinical manifestations of stroke, use the latest laboratory and imaging studies to arrive at a diagnosis, and generate an effective medical and surgical treatment plan.[books.google.de]
  • By contrast, eight weeks treatment with exogenous gonadotrophins maintained physiological plasma testosterone concentrations and induced testicular enlargement with induction of spermatogenesis.[ncbi.nlm.nih.gov]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • Some of the services we provide include: • Brachial Plexus Palsy treatment • Cerebral Palsy treatment • Epilepsy treatment • General Neurology treatment • Movement Disorders treatment • Neurofibromatosis Center treatment • Stroke treatment • Tuberous[neuro.wustl.edu]


  • PMID: 11932290 Prognosis Hufnagel RB, Arno G, Hein ND, Hersheson J, Prasad M, Anderson Y, Krueger LA, Gregory LC, Stoetzel C, Jaworek TJ, Hull S, Li A, Plagnol V, Willen CM, Morgan TM, Prows CA, Hegde RS, Riazuddin S, Grabowski GA, Richardson RJ, Dieterich[ncbi.nlm.nih.gov]
  • It has been hoped that earlier diagnosis and antiepileptic treatment might improve the long-term prognosis, although success has been variable (6).[ajnr.org]
  • The prognosis of chronic fatigue and chronic fatigue syndrome: a systematic review. QJM 1997;90:223–33. Naviaux RK, Naviaux JC, Li K, Bright AT, Alaynick WA, Wang L, Baxter A, Nathan N, Anderson W, Gordon E.[md-medicaldata.com]


  • Etiology J Inherit Metab Dis 2015 Jan;38(1):99-110. Epub 2014 Sep 2 doi: 10.1007/s10545-014-9759-7. PMID: 25178427 Diagnosis Verma R, Mehta M, Shettigar C, Singla S BMJ Case Rep 2018 Jun 28;2018 doi: 10.1136/bcr-2018-225638.[ncbi.nlm.nih.gov]
  • The etiology is still unknown. Bibliography J. Ware: Observations relative to the near and distant sight of different persons. Philosophical Transactions of the Royal Society of London, 1813: 31-50.[whonamedit.com]
  • Cerebrovascular diseases, head trauma and multiple sclerosis play a major role in the etiology. Symptoms may begin months to years after the etiological diagnosis. It is considerably resistant to medical therapy.[turkiyeklinikleri.com]


  • Relevant External Links for RNF216 Genetic Association Database (GAD) RNF216 Human Genome Epidemiology (HuGE) Navigator RNF216 Atlas of Genetics and Cytogenetics in Oncology and Haematology: RNF216 No data available for Genatlas for RNF216 Gene Ring finger[genecards.org]
  • Prevalence, incidence, and classification of chronic fatigue syndrome in Olmsted County, Minnesota, as estimated using the Rochester Epidemiology Project. Mayo Clin Proc. 2012;87(12):1145-52.[md-medicaldata.com]
  • Epidemiology Frequency International The frequency of Denys-Drash syndrome is unknown.[emedicine.medscape.com]
  • Bordet R, Mendyk AM, Gelà P, Deplanque D, Bae HJ, Lim JS, Brodtmann A, Werden E, Cumming T, Köhler S, Verhey FR, Dong YH, Tan HH, Chen C, Xin X, Kalaria RN, et al.STROKOG (stroke and cognition consortium): An international consortium to examine the epidemiology[nni.com.sg]
  • Following final approval by the task force as a whole, the graded recommendations were reviewed by two members with recognized expertise in epidemiology and guideline development (G.H.G. and P.M.) for further refinement and consistency.[cmaj.ca]
Sex distribution
Age distribution


  • The underlying pathophysiology of this combined neurodegeneration and nHH remains unknown. We aimed to provide insight into the disease mechanism in GHS.[ncbi.nlm.nih.gov]
  • Gain fresh perspectives and up-to-date insights from the world’s leading authorities on the pathophysiology, diagnosis, and management of stroke.[books.google.de]
  • The pathophysiological mechanisms and genetic causes of GHS are largely unknown and therapies limited.[fasebj.org]
  • The underlying pathophysiology of this combined neurodegeneration and nHH remains unknown. Objective: We aimed to provide insight in to the disease mechanism in GHS.[bristol.ac.uk]
  • Seminara established an international, multi-center, and interdisciplinary collaboration to uncover the pathophysiology underlying this devastating disorder. After 10 years of effort, Dr.[reproendo.mgh.harvard.edu]


  • Stay up to date on hot topics such as mechanisms of action of commonly used drugs, neuronal angiogenesis and stem cells, basic mechanisms of spasm and hemorrhage, prevention of stroke, genetics/predisposing risk factors, and much more.[books.google.de]
  • Australian Stroke Prevention in Reversible Ischaemia Trial (ESPRIT) group.[scindeks.ceon.rs]
  • Parental awareness of the downside of setting excessively high standards for children goes a long way toward preventing later misery. But there is hope for late-diagnosed impostors as well.[hbr.org]
  • Kelishadi, R ( 2010 ) Prevention and Control of Childhood Obesity: Today Better Than Tomorrow, 1st ed. Isfahan : Isfahan University of Medical Sciences. 49.[cambridge.org]
  • "Force majeure" term will be regarded as outside of the concerned party's reasonable control and any situation that "Turkiye Klinikleri" cannot prevent even though it shows due diligence.[turkiyeklinikleri.com]

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