Penn State Faculty Research Expertise Database (FRED) Ataxia. marinescosjogren syndrome, Spinocerebellar Degeneration. Early Degeneration. Maries Cerebellar Ataxia, Marinesco Sjogren Syndrome. Primary http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D013132
Gillespie GS is similar to marinescosjogren syndrome, but is considered to be caused by a different mutation. Conditions observed in GS patients. http://w1.891.telia.com/~u89105266/text/gillespie2.html
Extractions: Gillespie Syndrome is a very rare genetically inherited disorder, which is inherited Recievely. It was first identified in 1965 when F. D. Gillespie described brothers and sisters with this combination which had apparently not been reported previously. GS is similar to Marinesco-Sjogren syndrome, but is considered to be caused by a different mutation. Conditions observed in GS patients Bilateral partial aniridia congenital pulmonic stenosis Aniridia is the distuniguishing feature of GS, but aniridia in GS is identifable different from dominantly inherited aniridia, one note worth observation is that GS patients not develop cataracts and cornea pannus which are common in dominantly inherited aniridia. Diagnois can be made in the first months of life on the basis of the ocular findings. From slit lamp examination, the pupil border of the iris typically shows iris strands extending onto the anterior lens surface at regular intervals.
The Kuwait Medical Genetics Centre entity of syndromic dextrocardia, cases of Joubert s syndrome, SmithLemli-Opitz syndrome, Sjogren-Larsen syndrome, marinesco-sjogren syndrome, Troyer- like http://www.safat.com/kgc.html
Extractions: The accurate diagnosis of rare monogenic diseases. Investigating cases of congenital malformations. Providing genetic counselling for families with genetic disorders e.g. cases of male/female primary infertility, recurrent pregnancy loss, congenital malformations, structural/numerical chromosomal abnormalities, genetic forms of mental retardation, f amilial visual disorders and pre-marital counselling. Exploring the possible means of reducing neonatal mortality and physical disability. Providing training programmes for doctors and technical staff in the area of genetic counselling. The KMGC represents an independent entity located in the Maternity Hospital, and is affiliated to the Ministry of Health. The service is provided to a population size of 1.575.983 persons, including 655.820 (41.6%) Kuwaiti citizens and 920.163 (58.4%) non -Kuwaiti residents, mostly of Arab nationalities. The service is provided in liaison with departments of different specialities in satellite Genetics clinics attached to 5 regional hospitals including: Sabah and Ameri Hospital (serving 192.800 persons)
AtaxiasUntitled and eunuchoidism), Hereditary ataxia (with myotonia and cataracts), Hypertrophic interstitial neuritis, marinescosjogren syndrome, Pelizaeus-Merzbacher disease http://www.cmdg.org/Movement_/ataxias/ataxias.htm
Extractions: The Canadian Movement Disorder Group Ataxia Ataxia is a term to describe loss of balance. The part of the brain that is involved in balance is at the back of the brain, attached to the brainstem, and is called the "Cerebellum". Damage to the cerebellum or its connections will result in unsteadiness of walking, and clumsiness of hand and foot coordination. Many conditions can cause the cerebellum to stop working normally. Cause of Ataxia include a huge number of conditions: Drug / Toxin induced cerebellar dysfunction: These include drugs; Clonazepam, Tegretol, Phenobarb, Primidone, Dilantin and toxins including; acute alcohol intoxication, alcoholism, solvent abuse , lead / mercury Trauma to the cerebellum Head Injury Endocrine Disorders (diseases of the glands that release hormones) Hypothyroidism Nutritional Deficiencies Vitamin B12 deficiency Neoplastic (Tumor) Paraneoplastic (Associated with a distant tumor) Vascular Causes (Stroke) These include; vasculitis (inflamation of blood vessels eg. Lupus), angioblastoma (a tumor of the blood vessels), embolism (a blood clot plugging a blood vessel), hemorrhage (a blood vessel rupturing and bleeding into the cerebellum), and Von-Hippel-Lindau Syndrome (a disorder of blood vessel formation)
Select Entries From OMIM -- Online Mendelian Inheritance In Man 123580 CRYSTALLIN, ALPHAA; CRYAA *120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1 *261600 PHENYLKETONURIA *248800 marinesco-sjogren syndrome; MSS *115650 CATARACT http://anatomy.med.unsw.edu.au/cbl/embryo/OMIMfind/eye/congen_cataract.htm
UNSW Embryology-OMIM Muscular Dystrophy List PROXIMAL MYOTONIC MYOPATHY; PROMM *314850 KELL BLOOD GROUP PRECURSOR; XK *602415 DYSTROBREVIN, BETA; DTNB *248800 marinescosjogren syndrome; MSS *151628 LINE http://anatomy.med.unsw.edu.au/cbl/embryo/OMIMfind/skmus/OMIM-dystophy_list.htm
Extractions: MUSCULOSKELETAL DEVELOPMENT Embryology Home Page Select Entries from OMIM Online Mendelian Inheritance in Man (Internet Link) This page is for computers without external internet access. Internet access computers can see the full description of the abnormality from the links below. Back to UNSW Embryology-Musculoskeletal Notes 186 entries found, searching for " muscular dystrophy MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKER TYPES
SearchBug Directory: Health: Conditions_and_Diseases: M 5) Malnutrition (8) Malta Fever (11) Mannosidosis (2) Marburg (4) Marfan Syndrome (37) MarieSainton Disease (4) marinesco-sjogren syndrome (9) Master s http://www.searchbug.com/directory.aspx/Health/Conditions_and_Diseases/M/
Welcome To AJC! Trisomy 13; Conradi syndrome; Ectodermal dysplasia syndrome; marinescosjogren syndrome. Ency. home Disease C Congenital cataract. http://www.ajc.com/health/healthfd/shared/health/adam/ency/article/001615.html
Extractions: Subscribe ... Register Now It's Free! Log in E-mail preferences Site Index Search: Site Yellow Pages Customer care ajc.com Nation/World Metro ... Personals ajc services Archives Advertise online Advertise in print Obituaries ... Sitemap Print edition Today This week A1 image E-mail News Sign up for our Ency. home Disease C Congenital cataract See images Overview Symptoms Treatment ... Prevention Alternative names: Cataract - congenital Definition: A cataract is any clouding of the lens of the eye. a congenital cataract is an opacity of the lens that occurs in the fetus at some time during pregnancy and is present at birth. Causes and Risks Although there are many diseases and inherited disorders that can lead to congenital cataracts, the actual incidence of congenital cataracts is low. In most patients with congenital cataract, no specific cause can be identified.
MedlinePlus Medical Encyclopedia: Congenital Cataract Trisomy 13; Conradi syndrome; Ectodermal dysplasia syndrome; marinescosjogren syndrome. Although many diseases and inherited disorders http://www.nlm.nih.gov/medlineplus/ency/article/001615.htm
Extractions: @import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Skip navigation Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Contents of this page: Eye Cataract - close-up of the eye Rubella Syndrome Cataract Alternative names Return to top Cataract - congenital Definition Return to top A congenital cataract involves clouding of the lens of the eye that is present at birth. Causes, incidence, and risk factors Return to top The number of people born with cataracts is low. Possible causes of congenital cataracts include the following: Although many diseases and inherited disorders can lead to congenital cataracts, in most patients, no specific cause can be identified. Symptoms Return to top Opacity of the lens, often evident at birth without special viewing equipment and appearing as a whitish discoloration in an otherwise normally dark pupil
Neurology -- Abstracts: Walker Et Al. 35 (3): 415 ARTICLES. marinescosjogren syndrome evidence for a lysosomal storage disorder. The inherited abnormality of the marinesco-sjogren syndrome is not known. http://www.neurology.org/cgi/content/abstract/35/3/415
Extractions: The inherited abnormality of the Marinesco-Sjogren syndrome is not known. We studied four patients from two different families and ethnic groups. Electron microscopic studies revealed numerous, abnormally enlarged lysosomes that contained whorled lamellar or amorphous inclusion bodies. Enzyme studies excluded previously described lysosomal storage disorders.
Friedreich's Ataxia (FRDA) more prominent spasticity and cerebellar atrophy. 4. marinescosjogren syndrome. - ataxia with short stature, mental retardation, and cataracts. http://www.uwo.ca/clinns/resident/pocketbook/disorders/movement/frda.htm
Extractions: Friedreich's Ataxia (FRDA) Epidemiology First described in 1863 The most common early-onset hereditary ataxia - prevalence in North America estimated at 2 per 100,000 - carrier frequency of 1:120 Genetics Autosomal recessive inheritance - high risk if consanguinous unions - risk for sibling is 25% Gene for FRDA (X25) maps to 9q - codes for highly conserved protein, frataxin - most FRDA due to homozygous alleles with GAA triplet repeat expansions in first intron of X25 - rarely may have compound heterozygotes, with one allele bearing the intronic expansion and the other allele having a truncation or missense mutation (usually atypical or milder disease) - expanded repeats are unstable in transmission, esp paternal ( anticipation FRDA is due to deficiency of frataxin protein - GAA expansion interferes with transcription of protein - larger repeats more profoundly inhibit frataxin production - lead to earlier more severe form while small pathological expansions may allow small amount of residual production - frataxin is expressed mostly in heart, liver, skeletal muscle and spinal cord - protein localized on inner mitochondrial membrane - possibly leads to iron accumulation when deficient making mitochondria more susceptible to oxidative stress ( free radical toxicity Pathology - minimal involvement of brainstem, cerebellum and cerebrum (ie. not a cerebellar disease!)
ASHG: 2004 Annual Meeting - Exhibitor Prospectus M, MachereyNagel, Inc. Mammalian Genotyping Service. marinesco-sjogren syndrome Support Group. Marligen Biosciences, Inc. Mayo Medical Laboratories. McGraw-Hill. http://genetics.faseb.org/genetics/ashg/2004exhibitors/attendance-05.shtml
Extractions: General Information Attendance History Registrant History: 2000-2003 Geographic Distribution ... Online Service Kit A Academia Book Exhibits ACGT, Inc. ACLARA BioSciences, Inc. Actelion Pharmaceuticals US, Inc. Affymetrix, Inc. Agencourt Bioscience Agilent Technologies AGRE-Autism Genetic Resource Exchange Alpha Innotech Corporation Ambion Diagnostics Ambion, Inc. American College of Medical Genetics American Journal of Human Genetics American Peptide Company American Type Culture Collection Amersham Biosciences Corp. AMRESCO, Inc. Apogee Instruments, Inc. Apple Computer Applied Biosystems Applied Imaging Applied Precision, Inc. Applied Spectral Imaging, Inc. Appropriate Technical Resources, Inc. Arcturus Asper Biotech Athena Diagnostics AutoGen, Inc. AutoGenomics B Axon Instruments, Inc. Bangs Laboratories, Inc. Baylor College of Medicine, Medical Genetics Laboratories Beckman Coulter, Inc. Benetech Medical Systems BioCal Technology, Inc. Biochrom Ltd BioDiscovery, Inc. BioDot, Inc. BioMarin Pharmaceutical, Inc. BIOPHILE, Inc. Biosearch Technologies Inc. BioTechniques - Eaton Publishing BioView Ltd.
ASHG 2003 Exhibitors List marinescosjogren syndrome Support Group; Mayo Medical Laboratories; MEDGIS-PSA Computer Consultants; Mendelssohn Customs Services; MetaSystems; MJ Research, Inc. http://www.ashg.org/genetics/ashg/annmeet/2003/exhibits/exlist.shtml
Extractions: The purpose of the exhibit program is to further the education of registrants by providing an opportunity for exhibitors to present information on products or services relevant to registrants' professional interests. In keeping with that purpose, sales and order-taking (entering into a contract of sale) are discouraged on the exhibit floor and other related convention areas. Registrants are encouraged to view the exhibits in Hall C-E on Wednesday, 10:30 am - 6:30 pm; Thursday, 10:30 am - 6:30 pm; and Friday, 10:30 am - 3:30 pm. To assist in locating specific products and services of interest, a product and service index is available. This index is organized alphabetically by products/services, followed by names of exhibiting companies offering the product/service and their respective booth numbers. Booth numbers also follow the names of the exhibiting companies below. Academia Book Exhibits Actelion Pharmaceuticals US, Inc.
Centre National De Génotypage L., Chaigne, D., Gribaa, M., Dollfus, H., Silvestri, G., Bétard, C., Warter, JM and Koenig, M., Homozygosity mapping of marinescosjogren syndrome to 5q31. http://www.cng.fr/en/publications/pub2003.html
PharmGKB: Spinocerebellar Degenerations Marie Cerebellar Ataxia; Marie s Cerebellar Ataxia; Maries Cerebellar Ataxia; Marinesco Sjogren Syndrome; marinescosjogren syndrome; Primary Cerebellar http://www.pharmgkb.org/do/serve?objId=PA445716&objCls=Disease
Arch Neurol -- Table Of Contents (Vol. 47 No. 11, November 1990) The marinescosjogren syndrome examined by computed tomography, magnetic resonance, and 18F-2-fluoro-2-deoxy-D-glucose and positron emission tomography MB http://archneur.ama-assn.org/content/vol47/issue11/index.dtl
