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Canavan Disease
by Yael Rosenberg, RN
Description
Canavan Disease is an autosomal recessive genetic disease which is
the result of mutation of the ASPA gene located on chromosome 17.
The ASPA gene is responsible for instructing the body to produce an
enzyme called aspartoacylase. This enzyme breaks down NAA into 2
smaller compounds. Scientific studies suggest that if NAA is not
broken down properly it results in a chemical imbalance that impedes
myelin formation during nervous system development. In addition, a
buildup of NAA gives rise to destruction of the myelin covering of
nerve cells. This missing protective covering around the nerve
fibers causes the nerves to malfunction and die leading to brain
damage.
Symptoms
The Three Types of Canavan Disease
Type I: Neonatal Form
Onset is at birth and death occurs within few weeks of life.
Symptoms presented:
Decreased spontaneous movements
Lethargy
Difficulty swallowing, feeding and sucking
Irritability
Cheyne-stokes respirations (marked by periods of apnea)
Type II: Infantile Form
Onset is at a few months of life and death occurs between ages three
and four
This is the most common type of Canavan.
Initial Symptoms presented:
Delayed psychomotor development
Lethargy and poor head and neck control
Later Symptoms Presented:
Movement Disorders
Seizures
Blindness
Failure to Thrive
Gastrointestinal reflux
Type III: Juvenile Form
Onset after age five and death occurs at adolescence
Initial Symptoms Presented :
Tremors
Mental deterioration
Ataxia (lack of coordination)
Ptosis (drooping of the eyelids)
Later Symptoms Presented:
Dementia
Spasticity
Impaired speech production
Optic atrophy
Incidence and Carriers
Carrier Frequency: 1 in 40 in Jews of Ashkenazi descent
Disease Frequency: 1 in 6,400 to 13,500 in Jews of Ashkenazi descent
Disease present in all ethnic groups however frequency is unknown
Treatment
Currently this is no cure for Canavan disease. Treatment is
supportive and symptomatic. There are pharmacological interventions
such as the use of Lithium which are geared towards slowing the
progression of the disease.
Testing
Diagnosis: Made upon finding an increased level of NAA in the urine.
The abnormally high levels of NAA lead to a loss of insulation and
spongy degeneration of the brain.
Genetic testing for ASPA gene mutations (2 mutations (E285A, Y231X-
In the Jewish Ashkenazi)
Laboratories and Screening
The following laboratories offer genetic testing for Canavan
Disease:
United States
Israel
Canada
Europe
India
UNITED STATES
Ambry Genetics
100 Columbia #200
Aliso Viejo, CA 92656
Toll Free: (866) 262-7943
Phone: (949) 900-5500
Fax: (949) 900-5501
ARUP Laboratories
500 Chipeta Way
Salt Lake City, UT 84108-1221
Phone: (800) 522-2787
Fax: (800) 522-2706
Email:
clientservices@aruplab.com
Medical Genetics Laboratories
Baylor College of Medicine
One Baylor Plaza, NAB 2015
Houston, TX 77030
Phone: (800) 411-GENE (4363)
Fax: (713) 798-2787
Email: genetictest@bcm.edu
Client Services Manager
Alejandra Quick
Phone: (713) 798-7656
Fax: (713) 798-2787
Email: ahquick@bcm.edu
Boston University School of Medicine- Human Genetics
700 Albany Street
Suite 408
Boston, MA 02118-2394
Phone: (617) 638-7083
Fax: (617) 638-7092
Center for Genetic Testing at Saint Francis
6161 S. Yale Avenue
Tulsa, OK 74136
Main Office: (918) 502-1720
Phone: (866) 846-0315
Fax: (918) 502-1723
CytoGenX
1212 Rte 25A
Stony Brook, NY 11790
Phone: (888) GENE-MED
Denver Genetic Laboratories
UCD DNA Diagnostic Laboratory
12800 East 19th Avenue
Mail Stop 8313
Aurora, CO 80045
Phone: (303) 724-3801 (Main laboratory)
Fax: (303) 724-3802 (HIPAA-secure)
Detroit Medical Center University Laboratories
University Health Center
4201 St. Antoine
Suite 3E-1
Detroit, Michigan 48201
Phone: (313) 993-2631
Fax: (313) 993-2658
Emory University School of Medicine
Emory Molecular Genetics Laboratory
Atlanta, GA
Phone: (404) 778-8500
Fax: (404) 778-8559
Email: eglgc@emory.edu
Genzyme Genetics General Inquiries:
Phone: (800) 357-5744
Fax: (508) 389-5549
Client Services - Reproductive Genetics
Phone: (800) 848-4436
Hartford Hospital
Newington, CT
Phone: (860) 545-3409
Fax: (860) 545-3733
LabCorp
1912 Alexander Drive
Research Triangle Park, NC 27709
Phone: (800) 345-4363
Fax: (919) 361-7798
Email: genetics@labcorp.com
Mayo Medical Laboratories
3050 Superior Drive NW
Rochester, MN 55901
Phone: (800) 533-1710
Phone: (507) 266-5700
Fax: (507) 284-4542
Mount Sinai Genetic Testing Laboratory (DNA Division)
The Mount Sinai Medical Center
One Gustave L. Levy Place
New York, NY 10029-6574
Phone: (212) 241-3055
Fax: (212) 241-9467
Email:
rochelle.pakier@mssm.edu
New Jersey Medical School
Institute of Genomic Medicine
University Hospital
150 Bergen Street, F Level,
Room F342
Newark, NJ 07103
Phone: (973) 972-3170
Fax: (973) 972-0795
NYU Langone Medical Center
Human Genetics Program
550 First Avenue, Room MSB 136
New York, NY 10016
Phone: (212) 263-5746
Fax: (212) 263-7590
Quest Diagnostics-Nichols Institute
Molecular Genetics Laboratory
Medical Director, Charles Strom, MD, PhD
33608 Ortega Highway
San Juan Capistrano, CA 92690
Contact: Joy Redman, MS, Genetic Counselor
Phone: (949) 728-4279
Fax: (949) 728-4874
UCLA Diagnostic Molecular Pathology Laboratory
11633 San Vicente Blvd.,
Los Angeles, CA 90049
Phone: (310) 794-2781
Fax: (310) 794-2765
UC San Diego Medical Genetics
University of California San Diego
Division of Medical Genetics (MC 0639)
9500 Gilman Dr.
La Jolla, CA 92093-0639
Phone: (858) 534-3093
Fax: (858) 534-0269
Email: tcahill@ucsd.edu
Victor Outreach and Screening Program for Ashkenazi Jewish Genetic
Diseases
Floating Hospital for Children at Tufts Medical Center
800 Washington Street, Box 340
Boston, MA 02111
Phone: (617) 636-7721
Fax: (617) 636 0745
Victor Center for Jewish Genetic Diseases
Albert Einstein Medical Center
5501 Old York Road
Philadelphia, PA
Phone: (215) 456-8722
ISRAEL
GGA Galil Genetic Analysis Ltd
P.O.B. 3664
Kazerin, Hatzafon, Israel 12900
Phone: (+972) 4-9007100
Fax: (+972) 4-9007111
Email: gga@gga.org.il
Pronto Diagnostic Ltd.
19A Habarzel Street
Ramat Hachayal
Tel Aviv, Israel 69710
Phone: (+972) 73-312-6155
Fax: (+972) 73-212-6144
Email:
info@prontodiagnostics.com
Rabin Medical Center
Molecular Genetics
Petah Tikva, Israel
Director: Mordechai Shohat, MD
Genetic Counselor: Inbal Kedar, MSc
Phone: (+972) 3-937-7659
Fax: (+972) 3-937-7660
Email: inbalkd@clalit.org.il
Shaare Zedek Medical Center
Medical Genetics Institute
Jerusalem, Israel
Phone: (+972) 2-666-6435
Fax: (+972) 2-666-6935
Tel Aviv Sourasky Medical Center
Genetic Lab
Sourasky Builidng, 1st Floor, Wing 1
Tel Aviv, Israel
Phone: (+972) 3-697-4704
Phone: (+972) 3-697-3992
Fax: (+972) 3-697-4555
CANADA
Alberta Children's Hospital
Molecular Diagnostic Laboratory
Calgary, Alberta, Canada
Phone: (403) 955-7026
Fax: (403) 955-7624
Genetrack Biolabs Inc.
Molecular Genetics Laboratory
Vancouver, British Columbia, Canada
Contact: Kevin Chu
Phone: (604) 325-7282
Fax: (604) 325-2208
Email:
kevin@genetrack.bc.ca
The Hospital for Sick Children
Molecular Genetics Division
555 University Avenue
Room 3420, Hill Wing
Toronto, ON M5G 1X8 Canada
Phone: (416) 813-7200 ext. 1
Fax: (416) 813-7732
Molecular Genetics Laboratory
Montreal Children's Hospital
2300 Tupper Street
Room A-718
Montreal, Quebec, H3H 1P3
Procrea
Division of Opmedic Group Inc.
1361 Beaumont Avenue
Suite 301
Mont-Royal (Quebec)
H3P 2W3
Phone: (514) 345-8535
Toll Free: (888) PROCREA
Contact: France Lagace
Phone: (514) 345-8535 ext 2234
Fax: (514) 345-8978
Email: flagace@procrea.com
EUROPE
Germany
Spain
United Kingdom
GERMANY
Bioscientia GmbH
Center for Human Genetics
Ingelheim, Germany
Contact: Dr Nadine Bachmann
Email:
nadine.bachmann@bioscientia.de
Phone: (+49) 6132-781-429
Fax: (+49) 6132-781-194
Centogene GmbH
Schillingalee 68
18057 Rostock
Germany
Phone: (+49) 381-203652-0
Fax: (+49) 381-203652-19
Email:
office@centogene.com
Diagenom GmbH
Robert-Koch-Str. 10
D-18059 Rostock
Germany
Tel. (+49) 381-7022750
Fax (+49) 381-7022759
Email: mail@diagenom.de
Ruhr University
Universitaetsstrasse 150
44801 Bochum / Germany
Phone: (+49) 234-3223839
Contact: Stefan Wieczorek, MD
Phone: (+49) 234-322-3831
Fax: (+49) 234-321-4196
Email:
stefan.wieczorek@rub.de
SPAIN
BioscUniversidad Autonoma de Madrid
Centro de Diagnostico de Enfermedades Moleculares
Madrid, Spain
Director: Magdalena Ugarte, PhD
Genetic Counselor: Dr Lourdes Ruiz Desviat, PhD
Phone: (+34) 91196-4566
Fax: (+34) 91497-4863
Email: lruiz@cbm.uam.es
UNITED KINGDOM
Northwick Park and St. Mark's Hospitals
Kennedy-Galton Centre - NW Thames Regional Genetics Service
Harrow, United Kingdom
Director: Stewart Payne, DipRCPath
Phone: (+44) 208-869-3180
Fax: (+44) 208-869-3106
Email:
stewart.payne@nwlh.nhs.uk
INDIA
Sir Ganga Ram Hospital
Center of Medical Genetics
New Delhi, Delhi, India
Contact: Renu Saxena, PhD
Phone: (+91) 114-225-2139
Fax: (+91) 114-225-1034
email: renu@saxena.com
Resources and More
The Canavan Foundation
110 Riverside Drive #4F
New York, N.Y. 10024
Phone: (212) 873-4640
Toll Free: (877) 4-CANAVAN
Fax: (212) 873-7449
Email:
Canavandisease@aol.com
web:
http://www.canavanfoundation.org
The Canavan Research Foundation
Fairwood Professional Building
New Faifield, CT 06812
Phone: (203) 746-2436
Fax: (203) 746-3205
Web:
http://www.canavan.org
Canavan Research Illinois
"Dedicated to Curing Canavan Disease"
PO Box 8194
Rolling Meadows, IL 60067
Phone: (800) 833-2194
Email:
canavan@canavanresearch.org
Web:
http://www.canavanresearch.org
United Leukodystrophy Foundation
Canavan Disease
2304 Highland Drive
Sycamore, IL 60178
Phone: (815) 895-3211
Phone: (800) 728-5483
Fax: (815) 895-2432
Email: ulf@tbc.net.com
Web:
http://www.ulf.org
Contact: Paula Brazeal
Support Groups
Canavan Research Illinois is exceptionally responsive to the Canavan
families, physicians, and researchers that contact the charity.
Canavan Research Illinois puts Canavan families in touch with one
another, and also provides them (at no charge) with a Canavan
Quality Of Life Guide.
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