61. Leukodystrophy adrenoleukodystrophy, PelizaeusMerzbacher disease, Canavan disease, Alexander disease,Zellweger syndrome, Refsum disease, and cerebrotendinous xanthomatosis. http://healthlink.mcw.edu/article/921774741.html

Search Articles: search tips Please Take the HealthLink Survey Email this article Print this article Find related articles: By topic: By keywords: Receive Health Link via email! Subscribe now >> Leukodystrophy Leukodystrophy, also called "the leukodystrophies," refers to a group of genetic disorders that are characterized by the imperfect growth or development of the white matter or myelin sheath covering nerve fibers in the brain. The myelin sheath is an extremely complex fatty substance made of many components. Each of the leukodystrophies affects one of these components. Specific leukodystrophies include metachromatic leukodystrophy, Krabbe leukodystrophy, adrenoleukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, Alexander disease, Zellweger syndrome, Refsum disease, and cerebrotendinous xanthomatosis. Scientists say there may be other leukodystrophies that have not yet been identified. The most common signs seen in most leukodystrophies include gradual changes in an infant or child who previously appeared well. Changes may appear in body tone, movements, gait, speech, ability to eat, vision, hearing, behavior, memory, or thought processes. The symptoms, which vary according to the specific type of leukodystrophy, may be difficult to recognize in the early stages of the disease. Treatment of the leukodystrophies is symptomatic and supportive, and may include medications, physical, occupational and speech therapies, and nutritional, educational, and recreational programs.

62. Sterols, Cholesterol And Sterol Esters, Lipids And Lipid Analysis For example, premature atherosclerosis and xanthomatosis occur in two rare lipidstorage diseases, cerebrotendinous xanthomatosis and sitosterolemia. http://www.lipid.co.uk/infores/Lipids/sterols/

STEROLS STRUCTURE, OCCURRENCE AND ANALYSIS SCRI This document lists topics under the headings - Cholesterol Cholesterol esters Plant sterols and sterol derivatives Cholesterol 3-sulfate Analysis 1. Cholesterol In animal tissues, cholesterol (cholest-5-en-3ß-ol) is by far the most abundant member of a family of polycyclic compounds known as sterols . It can also be described as a polyisoprenoid. Cholesterol has an important role in membranes and in lipid metabolism in general, so is a lipid by any definition. I do not believe that all compounds that are soluble in organic solvents need be considered as lipids. The steroidal hormones, derived biosynthetically from cholesterol, are not lipids in the sense of my definition, and are not discussed further here. Cholesterol is formed biosynthetically from squalene via lanosterol as illustrated - It is a ubiquitous component of animal tissues and of fungi, where much of it is located in the membranes (as much as 30% of some membrane lipids). In plants, it tends to be a minor component only of a complex sterol fraction (see below). It occurs in the free form and esterified to long-chain fatty acids ( cholesterol esters ) in animal tissues, including the plasma lipoproteins. Animals in general synthesise a high proportion of their cholesterol requirement, but they can also ingest and absorb appreciable amounts in their diets. Many invertebrates, including insects, cannot synthesise cholesterol and must receive it from the diet; they can also make much more use of plant sterols than do higher animals.

63. Genes On Chromosome 2 2pter2qter*. CYP27A1, CYP27; cytochrome P450, subfamily XXVIIA (steroid27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1; http://wehih.wehi.edu.au/gdbreports/GeneByChromosome.2.alpha.html

Genes on Chromosome 2 Last Updated: Sun Aug 13 23:07:49 EDT 2000 * after the Cytogenetic Location indicates HUGO approval Symbol Aliases AccessionID Cytogenetic Location BSEP ATP-binding cassette, sub-family B (MDR/TAP), member 11 bile salt export pump (ABC member 16, MDR/TAP subfamily) SPGP PFIC-2 GDB:9864786 ATP-binding cassette, sub-family B (MDR/TAP), member 6 Hs.107911 UMAT GDB:9954945 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 1 GDB:9959523 ACADL Hs.1209 acyl-Coenzyme A dehydrogenase, long chain GDB:118745 achromatopsia (rod monochromacy) 2 GDB:9183896 Hs.75393 acid phosphatase 1, soluble GDB:118962 Hs.100008 actin, gamma 2, smooth muscle, enteric GDB:125198 ARP1 (actin-related protein 1, yeast) homolog B (centractin beta) GDB:9865775 TACE tumor necrosis factor, alpha, converting enzyme GDB:6045372 adenylate cyclase 3 GDB:371616 Hs.90951 adducin 2 (beta) ADDB GDB:135160 adrenergic, alpha-2B-, receptor GDB:120539 AGPS alkylglycerone phosphate synthase ADHAP ADHAP-PEN alkyl-dihydroxyacetonephosphate ADAS ADPS ADHAPS ADAP-S ALDHPSY GDB:9032957 AGXT SPAT Hs.81554

64. Home Page Of KT J. Lipid Res., 21, 339346 (1980). Occurrence of bile alcohol glucuronidein bile of patients with cerebrotendinous xanthomatosis. http://www.pharm.hiroshima-u.ac.jp/~ltakeda/PubMU.html

Original Paper Two new bile alcohols, 3-epimyxinol and 3-epi-16-deoxymyxinol from the hagfish, Heptatretus burgeri. M. Une, K. Kihira, T. Kuramoto, and T. Hoshita. Tetrahedron Lett. Comparative biochemical studies of bile acids and bile alcohols XI. Synthesis of 5a-cholestane-3a,7a,12a,25,26,27-hexol. K, Kihira, M, Une, T, Kuramoto, and T, Hoshita. Hiroshima J. Med. Sci. Bile salts of bullfrogs: a new higher bile acid, 3a,7a,12a,26-tetrahydroxy-5b-cholestanoic acid from the bile of Rana plancyi. M. Une, N. Matsumoto, K. Kihira, M. Yasuhara, T. Kuramoto, and T. Hoshita. J. Lipid Res. Bile acids and bile alcohols of bullfrog. Y. Noma, M. Une, K. Kihira, M. Yasuda, T. Kuramoto, and T. Hoshita. J. Lipid Res. Occurrence of bile alcohol glucuronide in bile of patients with cerebrotendinous xanthomatosis. T. Hoshita, M. Yasuhara, M. Une, A. Kibe, E. Itoga, S. Kito, and T. Hoshita. J. Lipid Res. Synthesis of four stereoisomer at carbons 24 and 25 of 3a,7a,12a,24-tetrahydroxy-5b-cholestan-26-oic acid, intermediates of bile acid biosynthesis. M. Une, F. Nagai, K. Kihira, T. Kuramoto, and T. Hoshita.

65. Gene-DIsease Set For Chromosome 2 defects in cyp27a1 are the cause of cerebrotendinous xanthomatosis (ctx), a raresterol storage disorder characterized clinically by progressive neurologic http://www.ebi.ac.uk/proteome/HUMAN/chromosomes/disease_set/2.html

Gene-Disease set for chromosome , according to SPTr. [Alternative view: Complete gene set Gene GDB GeneCards Location MIM Acc Nr Description Disease PubMed Ensembl InterPro CluSTr STRING Bile salt export pump (ATP-binding cassette, sub-family B, member 11). defects in abcb11 are the cause of progressive familial intrahepatic cholestasis 2 (pfic2), an inherited liver disease of childhood. pfic2 is characterized by cholestasis and normal serum gamma-glutamyltransferase activity. defects in abcb11 are also found in cases of chronic intrahepatic cholestasis without obvious familial history of chronic liver disease ATP-binding cassette, sub-family G, member 5 (Sterolin-1). defects in abcg5 are a cause of sitosterolemia, also known as phytosterolemia or shellfish sterolemia, a rare autosomal recessive disorder characterized by increased intestinal absorption of all sterols including cholesterol, plant and shellfish sterols, and decreased biliary excretion of dietary sterols into bile. sitosterolemia patients have hypercholesterolemia, very high levels of plant sterols in the plasma, and frequently develop tendon and tuberous xanthomas, accelerated atherosclerosis and premature coronary artery disease ATP-binding cassette, sub-family G, member 8 (Sterolin-2).

66. Leucodistrofie/ Introduzione Treatment of Canavan disease is symptomatic, and discomfort may be alleviatedby means of supportive care. cerebrotendinous xanthomatosis (CTX). http://www.peacelink.it/appeal/gianmarco/introdu.html

b) Introduzione alle Leucodistrofie INTRODUCTION The leukodystrophies are genetically determined progressive disor- ders that affect the brain, spinal cord and peripheral nerves. The term leukodystrophy derives from the Greek words "leuko" meaning white and referring to the white matter of the nervous system and "dystrophy" meaning imperfect growth or development. White matter is white to the naked eye because it contains a complex chemical substance called the myelin sheath. Myelin contains a variety of fatty substances or lipids. Its function is to insulate the axon through which nerve impulses are conducted, much as does insulation around an electric wire; the axon being the biological equivalent of the wire. The myelin sheath is a very complex substance. It is made up of at least ten, and probably more distinct chemicals. Each of the leuko- dystrophies affects one (and only one) of these substances that all affect the myelin sheath in some way, but otherwise, they are totally separate. Leukodystrophy of one type, does not in any way predispose to, or increase the risk of another type of leukodystrophy. When the term dystrophy is used in medicine, it is meant to imply a condition which is genetically determined, and which is progressive; that is, the condition tends to get worse as the patient gets older. Muscular dystrophy is another example of this type of illness.

67. Liste ORD cerebrocosto-mandibular syndrome cerebro-oculo-facio-skeletal syndrome cerebrohepatorenalsyndrome cerebrotendinous xanthomatosis (CTX) Chagas disease http://www.fmo.easynetonline.net/anciensite/listord.html

Retour Office of Rare Diseases Rare Diseases List A B C D ... Z A achalasia Achard-Thiers syndrome achondrogenesis achondroplasia achondroplastic dwarfism achromatopsia acid maltase deficiency acne rosacea acoustic neuroma acquired agranulocytosis acquired autoimmune hemolytic anemia acquired syphilis acrocallosal syndrome, Schinzel type acrodermatitis acrodermatitis enteropathica acrodysostosis acromegaly ACTH deficiency Actinomycetales infection acute (altitude) mountain sickness acute idiopathic polyneuritis acute intermittent porphyria acute lymphocytic leukemia acute myelocytic leukemia acute myelogenous leukemia acute necrotizing ulcerative gingivitis acute posterior multifocal placoid pigment epitheliopathy acute renal failure Adams-Oliver syndrome Addison's disease adenocarcinoid adenocarcinoma adenoid cystic carcinoma adenomelablastoma adenosine deaminase deficiency Adie syndrome adiposa dolorosa (Dercum's disease) adrenal cancer adrenal disorder adrenal hypertension adrenal insufficiency adrenal medulla neoplasm adrenal neoplasm adrenogenital syndrome adrenoleukodystrophy adrenomyeloneuropathy adult respiratory distress syndrome

68. 1Up Health > Health Links Directory > Conditions And Diseases: Nutrition And Met Categories. cerebrotendinous xanthomatosis (5) Cholesterol (42) Fabry's (8) FamilialHypercholesterolemia (5) Gaucher's (14) Hyperlipidemia (5) NiemannPick (4). http://www.1uphealth.com/links/nutrition-and-metabolism-disorders-cholesterol-an

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Nutrition and Metabolism Disorders : Cholesterol and Other Fats Description Categories Cerebrotendinous Xanthomatosis Cholesterol Fabry's Familial Hypercholesterolemia ... Wolman's Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Parts of the directory made available on 1UpHealth have been modified. External Web site links provided on this site are meant for convenience and for informational purposes only; they do not constitute an endorsement. Search: The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only they do not constitute endorsements of those other sites. Home Contact Us Privacy Links Directory

69. Stefania Lamon-Fava | Tufts Nutrition Faculty LamonFava S, Schaefer EJ, Garuti R, Salen G, Calandra S. Two novel mutationsin the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis. http://nutrition.tufts.edu/faculty/lamon/stefania/

Search: School Publications External Relations Research ... Zeitlin, Marian F. Stefania Lamon-Fava Assistant Professor Scientist II, Lipid Metabolism Laboratory, Jean Mayer USDA Human Nutrition Research Center on Aging M.D., University of Padua School of Medicine, Padua, Italy Ph.D. in Molecular Biology and Cellular Pathology, University of Modena, Italy Phone Email stefania.lamon-fava@tufts.edu Research Interests : Hormonal replacement, nutrition, lipoproteins, and cardiovascular disease risk; molecular aspects of the regulation of apolipoprotein A-I gene expression by sex hormones; effects of different hormone replacement therapy treatments on apolipoprotein A-I-containing lipoprotein kinetics; endocrine aspects of aging; epidemiology of coronary heart disease risk factors. Select Publications Lamon-Fava S. High-density lipoproteins: effects of alcohol, estrogen, and phytoestrogens. Nutr Rev Lamon-Fava S, Schaefer EJ, Garuti R, Salen G, Calandra S. Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis. Clin Gen Marsh JB, Welty FK, Lichtenstein AH, Lamon-Fava S, Schaefer EJ. Apolipoprotein B metabolism in humans: studies with stable isotope-labeled amino acid precursors.

70. NEUROSURGERY://ON-CALL Refsum disease; cerebrotendinous xanthomatosis; Neuronal ceroid lipofuscinoses.Review each of the major leukodystrophies including http://www.neurosurgery.org/resident/curriculum/neurology.html

NEUROLOGY UNIT OBJECTIVES Demonstrate an understanding of the neurologic examination, diagnostic neurologic testing, neurologic diseases and their treatment. COMPETENCY-BASED KNOWLEDGE OBJECTIVES: Junior and Middle Levels: Discuss electroencephalography. Recognize normal and abnormal EEG patterns. Identify specific epileptic conditions by EEG findings. Describe the principles of sensory evoked potential testing (SEPs). Discuss how SEPs may be useful diagnostically. List the indications for using intraoperative SEP monitoring and describe in detail how the procedure may be performed. Describe the principles of visual evoked potential testing (VEPs). Discuss how VEPs may be useful diagnostically. Describe the principles of motor evoked potential testing (MEPs). Discuss how MEPs may be useful diagnostically. List the indications for using intraoperative MEP monitoring and describe in detail how the procedure may be performed. Discuss electromyographic (EMG) testing in detail. Describe how the testing is performed and review the diagnostic capabilities of EMG testing. Describe the EMG changes associated with neuromuscular pathology. List the indications for using intraoperative EMG testing and describe in detail how the procedure may be performed.

71. Publication List cerebrotendinous xanthomatosis Some clinical, radiological, geneticand pathophysiological aspects. cerebrotendinous xanthomatosis. http://www.ifkb.nl/B2/publications.html

Publications B2: Neuromuscular and neurometabolic disorders University Medical Centre St. Radboud, Nijmegen homeIFKB Research themes Energy metabolism and fatigue Doctoral dissertations Verrips, A. (January 27, 2000, Katholieke Universiteit Nijmegen). Cerebrotendinous xanthomatosis: Some clinical, radiological, genetic and pathophysiological aspects Publications in scientific journals Journal of Inherited Metabolic Diseases, 23 Neuromuscular Disorders, 10 Brain, 123 Netherlands Journal of Medicine, 57 Neurology, 55 Radiology, 217 Clinical Neurology and Neurosurgery, 102 Magnetic Resonance Medicine, 43 European Journal of Clinical Investigation, 30 Neuropediatrics, 31 Journal of Gastroenterology, 35 Journal of Pediatric Gastroenterology and Nutrition, 30 NMR in Biomedicine, 13 Journal of Inherited Metabolic Diseases, 23 Journal of Pediatrics, 136 Journal of Clinical Neuromuscular Diseases, 2 Cytogenetics and Cell Genetics, 88 Annals of Neurology, 47 Brain, 123 Human Genetics, 106 Neuropediatrics, 31

72. ORPHANET® : Xanthomatosis Cerebrotendinous Translate this page ORPHANET. ORPHANET database access. xanthomatosis cerebrotendinous. Directaccess to details Alias Sterol 27-hydroxylase deficiency. Home Page. http://www.orpha.net/static/GB/xanthomatosis_cerebrotendinous.html

ORPHANET database access Xanthomatosis cerebrotendinous Direct access to details Alias : Home Page

73. Xanthomatosis Wolman disease Med. Coll. of Wisconsin. xanthomatosis, cerebrotendinous SearchPUBMED for xanthomatosis, cerebrotendinous All Review Therapy Diagnosis. http://www.ohsu.edu/cliniweb/C18/C18.452.981.html

Xanthomatosis Back to previous level Wolman Disease Search PUBMED for Wolman Disease: All Review Therapy Diagnosis ... Wolman disease: Med. Coll. of Wisconsin Xanthomatosis, Cerebrotendinous Search PUBMED for Xanthomatosis, Cerebrotendinous: All Review Therapy Diagnosis

74. Rare Diseases List - Office Of Rare Diseases gov. Disease xanthomatosis cerebrotendinous. Synonyms CTX. cerebrotendinousxanthomatosis. Disease Information. Clinical http://ord.aspensys.com/diseaseinfo.asp?ID=5622

75. 1445: Fine-mapping And Mutational Analyses Of Cerebrotendinous Xanthomatosis In Program Nr 1445 Finemapping and mutational analyses of cerebrotendinousxanthomatosis in US pedigrees. MH Lee 1 , S. Yi 1 , JD http://www.faseb.org/genetics/ashg99/f1445.htm

Program Nr: 1445 Fine-mapping and mutational analyses of cerebrotendinous xanthomatosis in US pedigrees. M.H. Lee , S. Yi , J.D. Carpten , J. Cohen , G. Salen , G.T. Gerhardt , S. Patel 1) Medicine, Medical University of SC, Charleston, SC; 2) Prostate-Cancer Investigation Group Laboratory of Cancer Genetics, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD; 3) University of Texas Southwestern Medical Center, Dallas, TX; 4) University Medical and Dental New Jersey, VA Hospital, East Orange, NJ; 5) Oregon Health Sciences University Department of Medicine, Portland , OR.

76. Leukodystrophy Hub A brief definition of leukodystrophy, followed by links to research articles, overviews, case reports http://www.projectlinks.org/leukodystrophy

Leukodystrophy hub Leukodystrophy, also called "the leukodystrophies," refers to a group of genetic disorders that are characterized by the imperfect growth or development of the white matter or myelin sheath covering nerve fibers in the brain. Specific leukodystrophies include metachromatic leukodystrophy, Krabbe leukodystrophy, adrenoleukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, Alexander disease, Zellweger syndrome, Refsum disease, and cerebrotendinous xanthomatosis. The most common signs seen in most leukodystrophies include gradual changes in an infant or child who previously appeared well. Changes may appear in body tone, movements, gait, speech, ability to eat, vision, hearing, behavior, memory, or thought processes. The symptoms, which vary according to the specific type of leukodystrophy, may be difficult to recognize in the early stages of the disease. Acne Allergy Antibiotics Antioxidants ... NINDS Leukodystrophy Information Page - by The National Institute of Neurological Disorders and Stroke, National Institutes of Health. Metachromatic leukodystrophy - by MEDLINEplus.

77. NINDS Leukodystrophy Information Page Leukodystrophy information sheet compiled by NINDS. http://www.ninds.nih.gov/health_and_medical/disorders/leukodys_doc.htm

National Institute of Neurological Disorders and Stroke Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system Browse all disorders Browse all health organizations More about Leukodystrophy Studies with patients Research literature Press releases Search NINDS... (help) Contact us My privacy NINDS is part of the National Institutes of Health NINDS Leukodystrophy Information Page Reviewed 11-19-2001 Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Leukodystrophy? Is there any treatment? What is the prognosis? What research is being done? ... Organizations What is Leukodystrophy? Is there any treatment? Treatment for most of the leukodystrophies is symptomatic and supportive, and may include medications, physical, occupational and speech therapies, and nutritional, educational, and recreational programs. Bone marrow transplantation is showing promise for a few of the leukodystrophies. What is the prognosis?

78. FSP Syndromes FAMILIAL SPINAL CORD SYNDROMES1 SPG General Principles11 1st cases described in 1880 by Strümpell Later more extensively discussed by Lorrain Epidemiology Prevalence 2 to 10 per 100 000 Classification according to http://www.neuro.wustl.edu/neuromuscular/spinal/fsp.html

Front Search Index Links ... Patient Info FAMILIAL SPINAL CORD SYNDROMES General principles Familial Spastic Paraplegia ( SPG Dominant : Atlastin; 14q11 : Spastin; 2p22 SPG 12q Recessive : Paraplegin; 16q24 (Troyer): Spartin; 13q12.3 Infantile onset : Alsin; 2q33 X-linked : Proteolipid protein; Xq22 Other Familial Spastic Paraplegia +... Ataxia CNS Ocular PNS ... Systemic Disorders Leukodystrophies Adrenomyeloneuropathy : ALDP; Xq28 Adult-onset Krabbe : GalC; 14q31 MLD : Arylsulfatase A; 22q13 Other spinal cord syndromes Syndromes AAA syndrome : Aladin; 12q13 Adrenomyeloneuropathy : ALDP; Xq28 Alexander : GFAP; 17q21 Alzheimer's : Presenilin 1; 14q24 Arnold-Chiari Malformation Cavanagh's Cerebral palsy-Symmetrical Cerebrotendinous xanthomatosis : Cytochrome 450; 2q33 Charlevoix-Saguenay : Sacsin; 13q11 DOPA-responsive dystonias DRPLA : DRPLA protein; 12p13 Episodic ataxia Evans Fitzsimmons syndrome Friedreich ataxia : FRDA; 9q13 Hereditary Motor Syndromes HHH syndrome HMSN 5 : ARX; Xp22 Infections: HTLV-1 Krabbe : GalC; 14q31 L1 cell adhesion molecule (MASA) Lawrence-Moon Leukodystrophy: Adult-onset Mass lesions Mast syndrome Mental retardation Rett syndrome: Small testes : ATRX; Xq13

79. EPEC - Educating Parents Of Extra-special Children - Various Disorders Educating Parents of Extraspecial Children (EPEC) A resource of informationfor adults with special needs and parents with special needs children. http://www.epeconline.com/VariousDisorders.html

Educating Parents of Extra-special Children (EPEC) A resource of information for adults with special needs and parents with special needs children. Various Disorders Self Defense Tips and Tricks For Women - Click Here The Single Mom's Survival Guide - Click Here In our links below, we have provided you with the diagnosis, definition, symptoms and helpful links of the various disabilities listed. 3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC) ACC ADD-ADHD Adrenoleukodystrophy (ALD) ... Zellweger Syndrome A Division of Richardson Enterprises Content Rating Any comments or questions about this site, please contact the Richardson Enterprises

80. Types Of Leukodystrophy TYPES OF LEUKODYSTROPHY. There are many types of Leukodystrophy, we areable to give a description of some types, below are links to a few. http://home.vicnet.net.au/~leuko/types.html

TYPES OF LEUKODYSTROPHY There are many types of Leukodystrophy, we are able to give a description of some types, below are links to a few. ADRENOLEUKODYSTROPHY (ALD) ADRENOMYELONEUROPATHY (AMN) ALEXANDERS DISEASE CANAVANS DISEASE (SPONGY DEGENERATION) ... OTHER LEUKODYSTROPHIES Australian Leukodystrophy Support Group Inc. 10 Mitchell Street Mentone 3194 Victoria Australia Email: leuko@vicnet.net.au Telephone +61 3 9584 7070 Fax: +61 3 9583 4379 ABN 61091 020 021 ARBN 091 020 021 Registered NO: A0031793T

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