Batten disease

Batten disease is a rare, fatal, autosomal recessive 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.

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Symptoms

Early symptoms of this disorder usually appear around ages 4-10, with gradual onset of vision problems, 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 a life limiting disease, life expectancy varies depending on the type or variation.

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

Batten 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 having 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

• CLN3
• lysosomal storage disease

References