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Revision as of 15:29, 21 August 2008

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Batten disease
ICD-10 E75.4
ICD-9 330.1
OMIM 204200
DiseasesDB 31534
MeSH D009472

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Please Take Over This Page and Apply to be Editor-In-Chief for this topic: There can be one or more than one Editor-In-Chief. You may also apply to be an Associate Editor-In-Chief of one of the subtopics below. Please mail us [3] to indicate your interest in serving either as an Editor-In-Chief of the entire topic or as an Associate Editor-In-Chief for a subtopic. Please be sure to attach your CV and or biographical sketch.

Batten disease is a rare, fatal, inherited disease of the nervous system (neurodegenerative disorder) that begins in childhood. Also known as Spielmeyer-Vogt-Sjogren-Batten disease, it is the most common form of a group of disorders called neuronal ceroid lipofuscinosis (or NCLs). Although Batten disease is usually regarded as the juvenile form of NCL, some physicians use the term Batten disease to describe all forms of NCL.

Symptoms

Early symptoms of this disorder usually appear at age 4–10, with gradual onset of vision problems, including eye discoloration in a milky fog gloss over the eyes, or seizures. Early signs may be subtle personality and behavior changes, slow learning or regression, repetitive speech or echolalia, clumsiness, or stumbling. There may be slowing head growth in the infantile form, poor circulation in lower extremities (legs and feet), decreased body fat and muscle mass, curvature of the spine, hyperventilation and/or breath-holding spells, teeth grinding, and constipation.

Over time, affected children suffer mental impairment, worsening seizures, and progressive loss of sight, speech and motor skills. Eventually, children with Batten disease become blind, bedridden, and demented. Batten disease is often fatal by ages 8 to 15.

History

Batten disease is named after the British pediatrician Frederick Batten who first described it in 1903.[1][2] Also known as Spielmeyer-Vogt-Sjogren-Batten disease, it is the most common form of a group of disorders called neuronal ceroid lipofuscinosis (or NCLs). Although Batten disease is usually regarded as the juvenile form of NCL, some physicians use the term Batten disease to describe all forms of NCL.

Inheritance and diagnosis

The disease is inherited in an autosomal recessive manner. The mutation causes the buildup of lipofuscins in the body's tissues. These substances consist of fats and proteins and form certain distinctive deposits that cause the symptoms and can be seen under an electron microscope. The diagnosis of Batten disease is based on the presence of these deposits in skin samples as well as other criteria. Six genes have now been identified that cause different types of Batten disease in children or adults; more have yet to be identified. Two of these genes encode enzymes. The function of most of these genes is still unknown. The identification of these genes opens up the possibility of gene replacement therapy or other gene-related treatments.

Treatment

In June 2004, a Phase I clinical trial was launched at Weill Medical College of Cornell University to study a gene therapy method for treatment of the signs and symptoms of late infantile neuronal ceroid lipofuscinosis (LINCL). The experimental drug works by delivering a gene transfer vector called AAV2CUhCLN2 to the brain.[3]

In October 2005, the FDA approved the transplantation of fetal neuronal cells into the brains of children suffering from Infantile and Late Infantile versions of Batten disease. The cells, which are immature and in an early stage of development, are derived from aborted and miscarried fetuses and will be injected into the patient's brains. To avoid rejection of these foreign cells, the immune system of the patients has to be suppressed.

In November 2006, surgeons at Doernbecher Children's Hospital at Oregon Health & Science University began a clinical study in which purified neural stem cells were injected into the brain of a six year old child suffering from Batten disease, who had lost the ability to walk and talk. The patient is expected the first of six to receive the injection of a stem cell product from StemCells Inc., a Palo Alto biotech company. It is believed to be the first-ever transplant of fetal stem cells into a human brain.[4]. By early December, the child had recovered well enough to return home and it was reported that there were some signs of speech returning. [5].

See also

References

  1. synd/7 at Who Named It
  2. F. E. Batten. Cerebral degeneration with symmetrical changes in the maculae in two members of a family. Transactions of the Ophthalmological Societies of the United Kingdom, 1902, 23: 386-390.
  3. "Clinical Trial: Safety Study of a Gene Transfer Vector for Children With Late Infantile Neuronal Ceroid Lipofuscinosis". Retrieved 2007-06-08.
  4. "A stem cell first at OHSU" The Portland Tribune, Nov 24, 2006
  5. "[1]Child who received stem cells from aborted fetus on way home"

External links

de:Neuronale Ceroid-Lipofuszinose


Cost Effectiveness of Batten disease

| group5 = Clinical Trials Involving Batten disease | list5 = Ongoing Trials on Batten disease at Clinical Trials.govTrial results on Batten diseaseClinical Trials on Batten disease at Google


| group6 = Guidelines / Policies / Government Resources (FDA/CDC) Regarding Batten disease | list6 = US National Guidelines Clearinghouse on Batten diseaseNICE Guidance on Batten diseaseNHS PRODIGY GuidanceFDA on Batten diseaseCDC on Batten disease


| group7 = Textbook Information on Batten disease | list7 = Books and Textbook Information on Batten disease


| group8 = Pharmacology Resources on Batten disease | list8 = AND (Dose)}} Dosing of Batten diseaseAND (drug interactions)}} Drug interactions with Batten diseaseAND (side effects)}} Side effects of Batten diseaseAND (Allergy)}} Allergic reactions to Batten diseaseAND (overdose)}} Overdose information on Batten diseaseAND (carcinogenicity)}} Carcinogenicity information on Batten diseaseAND (pregnancy)}} Batten disease in pregnancyAND (pharmacokinetics)}} Pharmacokinetics of Batten disease


| group9 = Genetics, Pharmacogenomics, and Proteinomics of Batten disease | list9 = AND (pharmacogenomics)}} Genetics of Batten diseaseAND (pharmacogenomics)}} Pharmacogenomics of Batten diseaseAND (proteomics)}} Proteomics of Batten disease


| group10 = Newstories on Batten disease | list10 = Batten disease in the newsBe alerted to news on Batten diseaseNews trends on Batten disease


| group11 = Commentary on Batten disease | list11 = Blogs on Batten disease

| group12 = Patient Resources on Batten disease | list12 = Patient resources on Batten diseaseDiscussion groups on Batten diseasePatient Handouts on Batten diseaseDirections to Hospitals Treating Batten diseaseRisk calculators and risk factors for Batten disease


| group13 = Healthcare Provider Resources on Batten disease | list13 = Symptoms of Batten diseaseCauses & Risk Factors for Batten diseaseDiagnostic studies for Batten diseaseTreatment of Batten disease

| group14 = Continuing Medical Education (CME) Programs on Batten disease | list14 = CME Programs on Batten disease

| group15 = International Resources on Batten disease | list15 = Batten disease en EspanolBatten disease en Francais

| group16 = Business Resources on Batten disease | list16 = Batten disease in the MarketplacePatents on Batten disease

| group17 = Informatics Resources on Batten disease | list17 = List of terms related to Batten disease


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