Canavan disease: Difference between revisions

	Canavan disease;
ICD-9	330.0
OMIM	271900
DiseasesDB	29780
MedlinePlus	001586

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Revision as of 17:47, 29 July 2020

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Zehra Malik, M.B.B.S [2]

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Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Canavan disease from Other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications, and Prognosis

Diagnosis

Diagnostic Criteria

History and Symptoms

Physical Examination

Laboratory Findings

Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Prevention

External links

References

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 ==Overview==
-'''Canavan disease''' is an inherited disorder that causes progressive damage to [[nerve cell]]s in the [[brain]]. This disease is one of a group of genetic disorders called [[leukodystrophies]]. Leukodystrophies are characterized by degeneration of [[myelin]], which covers the [[phospholipid]] layer of neuron insulating the axon.
 ==Historical Perspective==
-===Current Research===
-A team of researchers headed by Paola Leone 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 [[catheter]]s into the brain that deliver a solution containing 600 billion to 900 billion engineered [[virus]] particles. The virus, a modified version of [[Adeno-Associated Virus|AAV]], 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.
 ==Classification==
@@ Line 35: / Line 33: @@
 ==Causes==
-[[Image:autorecessive.svg|thumb|left|150px|Canavan disease is inherited in an autosomal recessive fashion.]]
-Canavan disease is caused by a defective ''[[ASPA (gene)|ASPA]]'' gene which is responsible for the production of the [[enzyme]] [[aspartoacylase]]. This enzyme breaks down the concentrated brain molecule [[N-acetyl aspartate|N-acetyl aspartate]]. Decreased aspartoacylase activity prevents the normal breakdown of N-acetyl aspartate, and the lack of breakdown somehow interferes with growth of the [[myelin]] sheath of the [[nerve fiber]]s in the brain. The myelin sheath is the [[fat]]ty covering surrounding nerve cells that acts as an [[Electrical insulation|insulator]], and allows for efficient transmission of [[nerve]] impulses.
 ==Differentiating {{PAGENAME}} from Other Diseases==
 ==Epidemiology and Demographics==
-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.  Canavan disease is inherited in an autosomal recessive fashion. If both parents are carriers, there is a 25% chance of having an affected child. [[Genetic counseling]] and [[genetic testing]] is recommended for families who may be carriers.
 ==Risk Factors==
@@ Line 49: / Line 44: @@
 ==Natural History, Complications, and Prognosis==
-Death usually occurs before age 4 untreated, although some children may survive into their  twenties via newer treatments which have extended life expectancy. There is no known cure.
 ==Diagnosis==
@@ Line 55: / Line 49: @@
 ===History and Symptoms===
-Symptoms of Canavan disease, which appear in early [[infant|infancy]] and progress rapidly, may include [[mental retardation]], loss of previously acquired [[motor skill]]s, feeding difficulties, abnormal [[muscle]] tone (i.e., floppiness or stiffness), poor head control, and [[megalocephaly]] (abnormally enlarged head). [[Paralysis]], [[blindness]], or [[seizure]]s may also occur.
 ===Physical Examination===
@@ Line 66: / Line 59: @@
 ==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.
-Research involving [[triacetin]] supplementation in patients with Canavan disease has shown some promising results. [http://jpet.aspetjournals.org/cgi/reprint/315/1/297.pdf Glyceryl Tricetate study] Triacetin, which can be enzymatically cleaved to form [[acetate]], enters the brain more readily than the negatively charged acetate.
 ===Medical Therapy===

Canavan disease: Difference between revisions

Revision as of 17:47, 29 July 2020

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Canavan disease from Other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications, and Prognosis

Diagnosis

Diagnostic Criteria

History and Symptoms

Physical Examination

Laboratory Findings

Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Prevention

See also

External links

References

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Canavan disease
ICD-9	330.0
OMIM	271900
DiseasesDB	29780
MedlinePlus	001586