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Symptoms[edit | edit source]
Early symptoms of this disorder usually appear between the ages of 4 and 10, when parents or physicians may notice that a child has begun to develop vision problems, including eye discoloration in a milky fog gloss over the eyes, or seizures. In some cases the early signs are subtle, taking the form of personality and behavior changes, extreamly quick learning or regression, repetitive speech or echolalia, clumsiness, or stumbling. Other symptoms or signs may include slowing head growth in the infantile form (INCL or CLN1) , 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. Later symptoms include random bleeding from the eyes and inflamation of nerve endings.
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 the late teens or twenties.
History[edit | edit source]
Batten disease is named after the British pediatrician Frederick Batten who first described it in 1903. Also known as Spielmeyer-Vogt-Sjogren-Batten disease, it is the most common form of a group of disorders called Neuronal Ceroid Lipofuscinoses (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[edit | edit source]
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[edit | edit source]
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.
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.. By early December, the child had recovered well enough to return home and it was reported that there were some signs of speech returning. .
See also[edit | edit source]
References[edit | edit source]
- Who Named It synd/7
- 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.
- Clinical Trial: Safety Study of a Gene Transfer Vector for Children With Late Infantile Neuronal Ceroid Lipofuscinosis. URL accessed on 2007-06-08.
- "A stem cell first at OHSU" The Portland Tribune, Nov 24, 2006
- "Child who received stem cells from aborted fetus on way home"
[edit | edit source]
- What is Batten disease at nataliefund.org
- Batten Disease and Research Association (bdsra.org)
- News of FDA approval at bdsra.org
amino-acids Phenylketonuria - Alkaptonuria - Ochronosis - Tyrosinemia - Maple syrup urine disease - Propionic acidemia - Methylmalonic acidemia - Isovaleric acidemia - Primary carnitine deficiency - Cystinuria - Cystinosis - Hartnup disease - Homocystinuria - Citrullinemia - Hyperammonemia - Glutaric acidemia type 1
carbohydrates Lactose intolerance - Glycogen storage disease (type I, type II, type III, type IV, type V), Fructose intolerance, Galactosemia
Lipid storage disorders Gangliosidosis - GM2 gangliosidoses (Sandhoff disease, Tay-Sachs disease) - GM1 gangliosidoses - Mucolipidosis type IV - Gaucher's disease - Niemann-Pick disease - Farber disease - Fabry's disease - Metachromatic leukodystrophy - Krabbe disease - Neuronal ceroid lipofuscinosis - Batten disease - Cerebrotendineous xanthomatosis - Wolman disease - Cholesteryl ester storage disease
List of fatty acid metabolism disorders - Hyperlipidemia - Hypercholesterolemia - Familial hypercholesterolemia - Xanthoma - Combined hyperlipidemia - Lecithin cholesterol acyltransferase deficiency - Tangier disease - Abetalipoproteinemia
mineral metabolism Disorders of calcium metabolism - Hypophosphatemia - Hypophosphatasia - Wilson's disease - Menkes disease - Hypermagnesemia - Hypomagnesemia - Hypercalcaemia - Hypocalcaemia
fluid, electrolyte and acid-base balance Electrolyte disturbance - Hypernatremia - Hyponatremia - Respiratory acidosis - Metabolic acidosis - Lactic acidosis - Hypervolemia - Hypokalemia - Hyperkalemia - Mixed disorder of acid-base balance - Hyperchloremia - Hypochloremia - Dehydration
porphyrin and bilirubin Acatalasia - Gilbert's syndrome - Crigler-Najjar syndrome - Dubin-Johnson syndrome - Rotor syndrome - Porphyria (Acute intermittent porphyria, Gunther's disease, Porphyria cutanea tarda, Erythropoietic protoporphyria, Hepatoerythropoietic porphyria, Hereditary coproporphyria, Variegate porphyria)
glycosaminoglycan Mucopolysaccharidosis - Hurler syndrome - Hunter syndrome - Sanfilippo syndrome - Morquio syndrome
glycoprotein I-cell disease - Pseudo-Hurler polydystrophy - Aspartylglucosaminuria - Fucosidosis - Alpha-mannosidosis - Sialidosis
other Alpha 1-antitrypsin deficiency - Cystic fibrosis - Familial Mediterranean fever - Lesch-Nyhan syndrome
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