[…] operational memory), even so presents information capacity, it is located in elementary level. [scielo.br]

However, it does not present in isolation, but as part of a broad multisystemic neurodegenerative process. [miami.pure.elsevier.com]

It is our ambition to present a complete survey of all medical phenomena named for a person, with a biography of that person. Disclaimer: Whonamedit? does not give medical advice. [whonamedit.com]

• Epilepsy

  All three subjects presented with a severe multisystemic phenotype including severe dementia, spastic tetraparesis, epilepsy, and autonomic dysfunction in addition to cerebellar ataxia, plus hypogonadism in one index patient. [miami.pure.elsevier.com]

  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]

  epilepsy [ 16, 34, 56 ]. [journals.plos.org]

  Aphasie acquise de l'enfant avec epilepsie (syndrome de Landau et Kleffner). Rev Neurol 1982 ; 138 : 755 -780 ↵ Lou HC, Brandt S, Bruhn P. Aphasia and epilepsy in childhood. [ajnr.org]

• Infertility

  Clinical features include cerebellar and brain stem atrophy, cerebellar ataxia, hypothalamic LHRH deficiency, hypogonadotrophic hypogonadism, lack of secondary sexual characteristics, and infertility. [uniprot.org]

  Clinical features include cerebellar and brain stem atrophy, cerebellar ataxia, hypothalamic LHRH deficiency, hypogonadotrophic hypogonadism, lack of secondary sexual characteristics, and infertility. {ECO:0000269 PubMed:23656588}. [genecards.org]

  (From Adams et al., Principles of Neurology, 6th ed, p489) Infertility MedGen UID: 43876 • Concept ID: C0021359 • Finding A reduced or absent capacity to reproduce. [ncbi.nlm.nih.gov]

• 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]

• Hypotension

  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]

  Meanwhile, as it is well known, two other sporadic degenerative syndromes with sometimes overlapping features with OPCA had been described in the 1960s, the Shy-Drager syndrome (with prominent orthostatic hypotension) and Adams-Van Bogaert striatonigral [em-consulte.com]

  […] ataxia, dysaesthesia, disturbance of position and vibration sense and spastic paraparesis or tetraparesis; additional manifestations described are segmental cutaneous sensory level and pseudoathetosis of the upper limbs [53], dysautonomia (postural hypotension [neupsykey.com]

  The most frequent cause of complete Bálint's syndrome is said by some to be sudden and severe hypotension, resulting in bilateral borderzone infarction in the occipito-parietal region. [1] More rarely, cases of progressive Bálint's syndrome have been [en.wikipedia.org]

• Anisocoria

  The difference in pupil size (anisocoria) can be found in a variety of ophthalmic disorders, which may be benign or not, such as physiological anisocoria, Horner’s syndrome, Adie’s pupil, pharmacological anisocoria, pupillary supranuclear disorders, problems [scielo.br]

• Ataxia

  LETTER Hypergonadotropic hypogonadism and cerebellar ataxia: an unusual association Hipogonadismo hipergonadotrófico e ataxia cerebelar: uma associação rara Pedro Braga-NetoI; Maria Cecília Resende MartinsII; Denizart Santos- NetoI; Patrícia WeismanI; [scielo.br]

  ataxia refers to ataxia due to dysfunction of the cerebellum. [ncbi.nlm.nih.gov]

  “Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination.” [dash.harvard.edu]

• Cerebellar Ataxia

  Some of these features can occur in distinct clusters on the phenotypic continuum: Boucher-Neuhäuser syndrome (cerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism); Gordon Holmes syndrome (cerebellar ataxia, hypogonadotropic [ncbi.nlm.nih.gov]

  To score the cerebellar dysfunction, we used the International Cooperative Ataxia Rating Scale (ICARS) 3. The patient obtained a 49 score. [scielo.br]

  […] hormone (GnRH).13 A decade ago, we described a consanguineous family with a syndrome of cerebellar ataxia, dementia, and hypogonadotropic hypogonadism.12 Here we report the results of whole-exome and targeted sequencing performed to identify mutations [dash.harvard.edu]

  This gives rise to the hypothesis that mutations in STUB1 might cause a far more multisystemic neurodegenerative phenotype than the previously reported cerebellar ataxia syndrome. [miami.pure.elsevier.com]

  Homepage Rare diseases Search Search for a rare disease Cerebellar ataxia-hypogonadism syndrome Disease definition Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of [orpha.net]

• Cerebellar Disease

  Clinical Symptoms of Cerebellar Disease and Their Interpretation. Lecture I. The Lancet 1922; 199(5155): 1177-1182 Holmes G. Clinical Symptoms of Cerebellar Disease and Their Interpretation. Lecture II. [litfl.com]

  Zurück zum Zitat Holmes GM. (1922) On the clinical symptoms of cerebellar disease. Croonian Lectures. Lancet 202: lecture I:1177–182, 1231–1237 and lecture II:59–65,111–115 Holmes GM. (1922) On the clinical symptoms of cerebellar disease. [springermedizin.de]

  His wartime observations on gunshot wounds re-awakened his interest in cerebellar disease which led to his classical analysis of the symptoms of cerebellar lesions described in his Croonian Lectures to the Royal College of Physicians in 1922. [8] He was [en.wikipedia.org]

  This may result from CRANIAL NERVE DISEASES; NEUROMUSCULAR DISEASES; CEREBELLAR DISEASES; BASAL GANGLIA DISEASES; BRAIN STEM diseases; or diseases of the corticobulbar tracts (see PYRAMIDAL TRACTS). [ncbi.nlm.nih.gov]

  Grainger Stewart he described the rebound phenomenon in cerebellar disease, later known as the Stewart-Holmes sign. [encyclopedia.com]

• Dysarthria

  Dysarthria MedGen UID: 8510 • Concept ID: C0013362 • Mental or Behavioral Dysfunction Disorders of speech articulation caused by imperfect coordination of pharynx, larynx, tongue, or face muscles. [ncbi.nlm.nih.gov]

  In early adulthood, individuals with Gordon Holmes syndrome develop neurological problems, usually beginning with speech difficulties (dysarthria). [rarediseases.oscar.ncsu.edu]

• Seizure

  All of the children have abnormal EEG results but all may not display seizure activity (2). The type of seizure may be simple partial motor, generalized tonic-clonic, atypical absences, or, rarely, myoclonic astatic (6). [ajnr.org]

  […] plus, see Genetic epilepsy with febrile seizures plus generalized lipodystrophy, see Congenital generalized lipodystrophy generalized lymphatic dysplasia, see Hennekam syndrome Generalized pustular psoriasis generalized pustular psoriasis of von Zumbusch [herenciageneticayenfermedad.blogspot.com]

  Other manifestations include seizures, visual loss and hyposmia. [neupsykey.com]

  All studies on the clinical characteristics of Nodding syndrome also found mental impairment of varying degrees in a part of their patients, and all found patients with other epileptic seizures in addition to head nodding seizures. [journals.plos.org]

  […] autosomal recessive, 5 (DKCB5) [MIM: 615190 ] Dyskeratosis congenita, autosomal dominant, 4 (DKCA4) [MIM: 615190 ] RTN2 O75298 non-pleiotropic Spastic paraplegia 12, autosomal dominant (SPG12) [MIM: 604805 ] RTTN Q86VV8 non-pleiotropic Polymicrogyria with seizures [sbg.bio.ic.ac.uk]

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]

This revised edition of Charles Brook's Handbook of Clinical Pediatric Endocrinology provides endocrinologists and pediatricians in training with a fully up-to-date clinical guide presenting evidence-based practice in the diagnosis, treatment, and management [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]

Case Reports Gordon Holmes spinocerebellar ataxia: a gonadotrophin deficiency syndrome resistant to treatment with pulsatile gonadotrophin-releasing hormone R Quinton et al. Clin Endocrinol (Oxf). 1999 Oct. [pubmed.ncbi.nlm.nih.gov]

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]

These tremors have marked etiological heterogeneity and the tremor task force of IPMDS recommends searching for those etiologies as noted in the axis-2 classification (Table 2). [frontiersin.org]

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]

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 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]

Pathophysiology The underlying pathophysiology is not completely clear. [accesspediatrics.mhmedical.com]

The pathophysiological mechanisms and genetic causes of GHS are largely unknown and therapies limited. [fasebj.org]

Only a few case reports exist, and the underlying pathophysiology is not completely clear. [accessanesthesiology.mhmedical.com]

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]

Published monthly on behalf of the Royal College of Psychiatrists, the journal is committed to improving the prevention, investigation, diagnosis, treatment, and care of mental illness, as well as the promotion of mental health globally. [bjp.rcpsych.org]

In the end, however, he was unable to prevent her death. Meanwhile, Moriarty had developed a plot to release a plague of vampires on London, though his alliance with Dracula had fallen apart. [encyclopedia2.thefreedictionary.com]