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. [miami.pure.elsevier.com]

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]

• Hypomimia

  12y 20y Tendon reflexes increased in UE/LE increased in UE/LE increased in UE/LE Spacticity in UE and LE in UE and LE in UE and LE Babinski’s sign bilateral bilateral bilateral Ankle clonus - bilateral bilateral Urge incontinence (40y) Parkinsonism hypomimia [ojrd.biomedcentral.com]

• Bilateral Ankle Clonus

  Ankle clonus - bilateral bilateral Urge incontinence (40y) Parkinsonism hypomimia - - Hyperkinetic movements (dystonia/athetosis) focal dystonia upper limb intermittend ballistic athetotic movements intermittend ballistic athetotic movements Epilepsy [ojrd.biomedcentral.com]

• Unable to Walk

  […] to walk, requiring wheelchair; 7: confined to the bed) [ 12 ]. [ojrd.biomedcentral.com]

• Gait Ataxia

  ataxia 42 , since age 6 (including primary amenorrhoea) / n/Ø Mild Atrophy cerebellum IHG25353 1 B M BNS 6, gait ataxia 61 , since age 6 / / N Atrophy cerebellum 2 B M BNS 6, gait ataxia 57 , since age 6 / / N Atrophy cerebellum IHG25357 1 V M BNS 14 [academic.oup.com]

• Generalized Tonic-Clonic Seizure

  Subject II.1, family 1, presented with slightly delayed early motor development, generalized tonic-clonic seizures (years 1–2 of life) and undescended testes (surgery at age 7). He did not show ataxia symptoms until age 12. [ojrd.biomedcentral.com]

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]

Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines. [orpha.net]

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]

Prognosis The prognosis for patients with Pancoast syndrome is stage dependent. [emedicine.medscape.com]

Prognosis may be improved by diagnosis at a younger age that allows for early interventions, while interventions in adulthood are valuable but less beneficial. 58. management A typical program generally includes the training of social skills for more [de.slideshare.net]

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]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

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]

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]

Standards for epidemiologic studies and surveillance of epilepsy. Epilepsia. 2011;86 (Suppl. 7): 1528–1167. View Article Google Scholar 61. [journals.plos.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]

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]

Prevention of type 2 diabetes with troglitazone in the Diabetes Prevention Program. Diabetes. 2005 ; 54 : 1150–1156. [ahajournals.org]

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]

Another study, reported online May 16 in Molecular Cell, reveals that mutations in a ubiquitin-conjugating enzyme lead to intellectual disability by preventing proper disposal of mitochondria. [alzforum.org]