Canavan disease disease is inherited in an autosomal recessive fashion.
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Canavan leukodystrophy

Canavan disease is an inherited disorder that causes progressive damage to nerve cells in the brain. This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies are characterized by degeneration of myelin, which is the fatty covering that insulates nerve fibers. more...

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Epidemiology

Although Canavan disease may occur in any ethnic group, it affects persons of Eastern European Jewish ancestry more frequently. About 1/40 individuals of Eastern European (Ashkenazi) Jewish ancestry are carriers, about 1:10,000. Canavan disease is inherited in an autosomal recessive fashion. If both parents are carriers, there is a 25% chance to have an affected child. Genetic counseling and genetic testing is recommended for families who may be carriers.

Cause

Canavan disease is caused by a defective ASPA gene, responsible for the production of the enzyme aspartoacylase. This enzyme breaks down the n-acetyl-asparate acid, which is a toxin. With decreased levels of aspartoacylase comes an increase in n-acetyl-aspartate, which interferes with growth of the myelin sheath of the nerve fibers in the brain. The myelin sheath is the fatty covering surrounding nerve cells that acts as an insulator, and allows for efficient transmission of nerve impulses.

Symptoms

Symptoms of Canavan disease, which appear in early infancy and progress rapidly, may include mental retardation, loss of previously acquired motor skills, feeding difficulties, abnormal muscle tone (i.e., floppiness or stiffness), poor head control, and megalocephaly (abnormally enlarged head). Paralysis, blindness, or seizures may also occur.

Treatment

There is no cure for Canavan disease, nor is there a standard course of treatment. Treatment is symptomatic and supportive. The life expectancy of Canavan patients is not known because new treatments have extended their lives beyond earlier projections. Today, Canavan children often survive into their teens and beyond. Until recently, there was absolutely no hope for Canavan children.

Current research

Paola Leone, Ph.D. and her team are the only researchers in the entire world working directly with Canavan children. Dr. Leone and her team have pioneered a brain gene therapy to halt the progression of the disease. Their research offers a glimpse at treating and eventually eradicating similar degenerative diseases of the brain, such as Parkinson's disease, Alzheimer's disease, Lou Gehrig's disease (ALS), and Multiple Sclerosis.

Dr. Leone and her team are currently at the University of Medicine and Dentistry of New Jersey, in Camden, New Jersey. The brain gene therapy is conducted at Cooper University Hospital. The procedure involves the insertion of six catheters into the brain that deliver a liquid virus containing 600 billion to 900 billion viral particles. The virus is designed to replace the aspartoacylase enzyme. Children treated with this procedure to date have shown marked improvements, including the growth of myelin with decreased levels of the n-acetyl-aspartate toxin.

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Weekend calendar
From Deseret News (Salt Lake City), 9/10/04

MUSIC/DANCE

Douglas Bush, faculty organist, Friday, 7:30 p.m., Madsen Recital Hall, BYU, Provo, free

Orem Institute of Religion Summer Choir, Friday, 7:30 p.m., Temple Square Assembly Hall, free

Utah Symphony, with Olga Kern, Friday-Saturday, 8 p.m., $12-$47 (355-2787)

Tangle Ridge, Saturday, 9:30 a.m., Murray Farmers' Market, 5109 S. Murray Park Lane, free

Annual State Fair winners of Mu Pi Epsilon, Saturday, 7:30 p.m., Temple Square Assembly Hall, free

Concerto Brasileiro, Saturday, 7:30 p.m., Madsen Recital Hall, BYU, Provo, free

Jon Schmidt, Saturday, 7:30 p.m., Waterfall Amphitheater, Thanksgiving Point, $8 in advance or $10 at door (325-7328)

Air Supply, Saturday, 8 p.m., Sandy Amphitheater, $15-$25 (568- 2787)

Michael Lucarelli, Saturday, 8 p.m., Aerie, Snowbird Ski Resort, free

Osmonds Second Generation, Saturday, 8 p.m., Heritage Center, Cedar City, $30-$40 (435-586-7872)

Stacey Board, Sunday, 11 a.m., Atrium, Snowbird Ski Resort, free

Joan Osborne, Sunday, 7 p.m., Red Butte Garden, $22-$24 (325- 7328)

Orchestra of Southern Utah, OSU Soloists, Tuesday, 7:30 p.m., St. Jude's Episcopal Church, 60 N. 200 West, Cedar City, $3-$5 suggested donation

Larry Jackstien Trio, Wednesday, 8 p.m., Aerie, Snowbird Ski Resort, free

Keith Johnson and Stephen Koester, choreographers, Thursday-Sept. 17, 7:30 p.m., Studio 240, Marriott Center for Dance, U., $5-$10 at door

Anne Akiko Meyers, violinist, Thursday, 7:30 p.m., Libby Gardner Concert Hall, $25 (355-2787)

Latin Revolution, Thursday-Sept. 17, 8 p.m., Rose Wagner Performing Arts Center, $30-$35 (355-2787)

LUNCH CONCERTS

Lunch Bunch Concert Series, noon-1 p.m., Gallivan Center Plaza, free: today, Simple People; Monday, Billy Jack; Tuesday, The B.D. Howes' Band; Wednesday, Stephanie Smith; Thursday, Barrel House

GETTING OUT

Davis Arts Council Film Festival, today-Saturday, dusk, Kenley Centennial Amphitheater, 403 N. Wasatch Drive, Layton, free

Freedom Fair, Saturday, 4-10 p.m., Gallivan Center, free

Canavan Leukodystrophy Fund Raiser, Saturday, 5-10 p.m., 6125 W. Patti Drive, West Valley City (proceeds from food sold by Texas Roadhouse)

Tango workshops, Saturday-Sept. 19, classes, dates, times and locations vary (573-8081 or www.wasatchtango.org)

Old farm equipment show, Saturday, 9 a.m., Salem rodeo grounds, Salem, free (801-798-8986)

Mexican Independence celebration, Saturday-Sunday, 2 p.m., Centro Civico Mexicano, 155 S. 600 West, free

Paleontology of the Grand-Staircase, lecture by Mike Getty, Saturday, 7:30 p.m., Robber's Roost Bookstore, Torrey, free

Bridge lessons, Saturdays, 9 a.m., The Bridge Center, 525 E. 4500 South, Building F, Room 220, free (733-5400)

"Clark After Dark: Rock Hall of Fame," Fridays-Saturdays, hourly from 9 p.m.-midnight; weekdays, 9 p.m. only, Clark Planetarium, Gateway, $4-$7 (456-7872)

Country-western and line dancing, Fridays, 8-11:30 p.m., Dance Centre in Murray, 4880 S. State (269-1400)

Dee's Dances for Singles, 25 and older, Saturdays, 9 p.m., $7 at door, see www.deesdances.com for this week's location

Dog Day Afternoons, Saturdays, 1-3 p.m., Salt Lake City Main Library, free

Eastern European Family History Research Group, third Saturday every month, 1 p.m., Family History Library room B120, free

Hypnotist, Saturdays, 10 p.m., Avalon Theater

Families Anonymous, Wednesdays, 7:30 p.m., Christ Methodist Church, 2375 E. 3300 South, free (581-0180)

Hourly star shows, 12:30-6:30 p.m. (8:30 on weekends), Clark Planetarium, Gateway, $3-$6 (456-7827)

Hunt Mysteries, audience participation dinner shows; dates, venues and ticket pricevary (569-1482 or www.huntmysteries.com)

Karaoke, 16 and older, Fridays, 10:30 p.m.-1 a.m., Draper Historic Theatre, 12366 S. 900 East, no smoking or alcohol, $5 cover (www.drapertheatre.org)

Lindy and Swing Dance Club, Tuesdays, 7:30 p.m., Shepherd Union Gallery, WSU, Ogden, $1-$5 (801-626-6439)

Salt Lake Area Accordion Club, third Tuesday every month, 7 p.m., Utah Cultural Celebration Center, 1355 W. 3100 South (www.slaac.com)

Storytime, Fridays through Sept. 24, 11 a.m., Living Planet Aquarium, 522 S. 400 West, Ste. 200 (355-3474)

Utah Line Dance Coalition, third Sunday every month, 1:30 p.m., Salt Lake County Complex South Atrium, 2001 S. State, free

West Coast Swing Lessons/Dancing, Wednesdays, 9-11 p.m., Columbus Center Auditorium, 2531 S. 400 East, $7 (www.rocknrhythms.com or 298- 8047)

West Coast Swing Lessons, Tuesdays, Fridays and Saturdays, 8 p.m.- midnight, Dance Centre in Murray, 4880 S. State (269-1400)

THEATER

OPENING THIS WEEK

"Alias Smedley Pewtree or the Villain of Glitter Gulch," today- Sept. 13, 7:30 p.m., Pleasant Grove Players, 30 E. Center, $2 (free matinees, 1 and 4 p.m. Saturday)

"A Letter to Harvey Milk," today-Sept. 26, dates and times vary, Plan-B Theatre Company, Rose Wagner Center, 138 W. 300 South, $10- $18 (355-2787)

"Always . . . Patsy Cline," today-Sept. 25, dates and times vary, Grand Theatre, 1575 S. State, $10-$20 (957-3322)

"Cymbeline," Thursday-Sept. 18, 7:30 p.m. plus 2 p.m. Saturday matinee, BYU Theatre for Young Audiences, Nelke Theatre, Provo, $6- $9 (378-4322)

"The Importance of Being Earnest," Wednesday-Oct. 2, Mondays- Saturdays, times vary, Pioneer Theatre Company, 300 S. 1400 East, $20- $39 (581-6961)

"Oliver!," Tuesday-Sept. 19, dates and times vary, national tour, Capitol Theatre, $30-$55 (355-2787)

CONTINUING PRODUCTIONS

"Bull in a China Shop," through Sept. 11, Academy Theatre Company, 3188 S. 400 East, $10-$12 (898-2728)

"Fiddler on the Roof," through Sept. 25, Heritage Theatre, 2305 S. Highway 89, Perry, $7-$35 (435-723-8392)

"How to Succeed in Business Without Really Trying," through Oct. 1, Rodgers Memorial Theatre, 292 E. Pages Lane, Centerville, $9-$14 (298-1302)

"Jekyll and Hyde: The Musical," through Oct. 16, Hale Center Theater Orem, 225 W. 400 North, $10.50-$15.50 (801-226-8600 or www.haletheater.com)

"The Medicine Show," through Sept. 25, Emerson-Smith College, Villa Playhouse, 254 S. Main, Springville, $6-$35 (471-7193)

"Moon Over Buffalo," through Oct. 16, Provo Theatre Company, 105 E. 100 North, $12.50-$15 (379-0600)

"On Golden Pond," through Sept. 25, Little Brown Theatre, 239 S. Main, Springville, $6-$25 (489-3088)

"Once On This Island," through Monday-Sept. 13, American Fork Arts Council, Utah State Training School amphitheater, $5-$20

"Peter Pan," through Sept. 18, Terrace Plaza Playhouse, Ogden, 99 E. 4700 South, Ogden, $5-$10 (393-0070)

"Raise the Roof," through Sept. 25, Lagoon Music Theater, Farmington (451-8000)

"Rock U2 the Top," through Sept. 26, Carousel Theater, Lagoon, Farmington (451-8000)

"The Soap-ranos," through Nov. 6, Desert Star Cabaret Theater, 4861 S. State, Murray, $6-$13 (266-2600 or www.DesertStar.biz)

"Twist the Night Away," through Oct. 23, Bumbleberry Playhouse, 897 Zion Park Blvd., Springdale, $10-$17.50 (435-772-3611 or 866-478- 4854)

"You Can't Take It With You," through Oct. 2, Hale Centre Theatre, 3333 S. Decker Lake Drive, West Valley City, $12-$19 (984-9000 or www.halecentretheatre.org)

"You're a Good Man, Charlie Brown," through Oct. 1, Center Street Musical Theatre, 177 W. Center, Provo, $7-$25 plus additional $10 for optional catered meals (764-0535 or www.csmtc.com)

COMEDY

23 Skidoo, first, third and fifth Fridays of each month, Papa Lee's, 117 N. University Ave., Provo (375-2654)

Comedy Sportz and Skinny Lincolns, Fridays and Saturdays, 9 p.m., 7711 S. Main (700 West), Midvale, $8 (748-2283)

In No Particular Order, Fridays, 8 p.m., Mark Studio, 3188 S. 400 East, $5 (484-5662)

Knock Your Socks Off, dates and venues vary (891-6397 or www.KYSSoff.com)

Laughing Stock, Fridays and Saturdays, 10 p.m., Off Broadway Theatre, 272 S. Main, $6-8 (355-4628)

Off the Top, Saturdays, 8 p.m., Plan B, 268 Main, Park City, $7 (435-647-5678 or www.otwimprov.com)

Off the Wall, Fridays, 7 p.m., Center Theater, Stonewall Coffee Co., 355 N. 300 West, $7 (891-1177)

Quick Wits, Fridays and Saturdays, 10 p.m., 7700 S. 700 West, Midvale (577-8323)

CLUBS

Blue Kat Club, Cedar City: Kelly Joe Phelps and Steve Swift, Saturday (435-867-9800)

Bourbon Street Bar and Grille: College Night with DJ Justin Godina, Tuesdays (521-8358)

Cabana Club: Dave Compton, Tuesdays, Fridays and Saturdays (359- 6271)

Cisero's: Locals Night, Wednesdays (1-435-649-5044)

Club 90: Under the Gun Reunion, today and Saturday (566-3254)

Club Manhattan: Old School Funk/Disco, Mondays; Universal Dance Beat, Tuesdays; Best of the '80s, Wednesdays; open mike, Thursdays; House and Trance, Saturdays (364-7651)

Club Palms: grand opening, today(9/10); Anything Goes, Saturdays; Club Heat, Wednesdays; Salsa Night, Thursdays (366-4000)

Ego's: Spanky Van Dyke, 3 Inch Max and Magstatic, Friday; Purdy Mouth, Saturday; McCook, Tuesday; Doug Stanhope, Wednesday (521- 5255)

Halo: The Paybacks, Saturday (363-4522)

Hog Wallow Pub: Roosters and Rocky Mountain Rescue Dog Benefit, Saturday (733-5567)

Kilby Court: Six Parts Seven, Monday; Matt Haimovitz, Wednesday (320-9887)

Liquid Joe's: Tom McRae, Monday; The Spazmatics, Saturdays; Songwriters Showcase, Sundays; Metal Gods, Thursdays (467-5637) Lo- Fi Cafe: (949-6324)

*Mo Diggity's: (832-9000)

Monks House of Jazz: (350-0950)

J.B. Mulligans: (435-658-0717)

Phat Tire Saloon: (262-7428)

Piper Down: (468-1492)

Plan B in Park City: (435-615-7588)

Porcupine Pub and Grill: (942-5555)

Port O'Call: (521-0589)

Ritz Club: (485-8507)

Royal Palace: (801-798-7650)

Sanctuary: (532-4614)

Sandy Station: (255-2289)

Sky Box Amphitheatre: (456-1200)

Suede: Dickey Betts and Great Southern, today; Alpha Blondy, Wednesday (435-658-2665)

Tap Room: Open jam, Sundays; 466-0974

Tavernacle Social Club: karaoke night, Tuesdays; Mixed Company Comedy, Thursdays; Duelin' pianos, Thursdays-Saturdays (519-8900)

Velvet Room: Royal Bliss, Thursday (478-4310)

Wasatch Front Bar & Grill: pianist Wayne Christiansen, Tuesdays- Thursdays; disc jockey and dancing, Fridays and Saturdays (261-0115)

E-mail: features@desnews.com

Copyright C 2004 Deseret News Publishing Co.
Provided by ProQuest Information and Learning Company. All rights Reserved.

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