Spielmeyer-Vogt disease
Overview
Batten disease is a rare, fatal autosomal recessive neurodegenerative disorder that begins in childhood. Also known as Spielmeyer-Vogt-Sjögren-Batten disease, it is the most common form of a group of disorders called neuronal ceroid lipofuscinosis (or NCLs)
NCLs are characterized by an abnormal accumulation of lipopigaments, which are substances combined from fats and proteins within the brain’s nerve cells, eyes, skin, muscle, and within other tissues throughout the body.
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.
Causes
Research has located a mutated gene responsible for Batten-Spielmeyer-Vogt/Juvenile NCL/CLN3, although the protein that the gene codes has not been identified.
Source: Hide&Seek Foundation
Prevention
As the mutation in the gene for Batten-Spielmeyer-Vogt/Juvenile NCL/CLN3 disorder has been identified, DNA analysis can confirm a diagnosis in families wherein there are known carriers. Prenatal DNA analysis is also available for families affected by this form of Batten Disease.
Source: Hide&Seek Foundation
Diagnosis
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.
Also a urine test is utilized to help diagnose Batten-Spielmeyer-Vogt/Juvenile NCL/CLN3. The test measures increased levels of a chemical called dolichol. A biopsy of a tissue or skin sample to look for particular cellular deposits unique to NCL disorders is often performed to confirm a diagnosis. Other diagnostic tests include electroencephalogram, or EEG, to locate seizure activity in the brain, eye examination for optical complications characteristic of NCL disorders, and brain scan to search for changes in the brain’s appearance.
Prognosis
Life Expectancy for Batten-Spielmeyer-Vogt/Juvenile NCL/CLN3 disorder is between the late teens and early 20s.
Source: Hide&Seek Foundation
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.
Otherwise,there is no cure for Batten-Spielmeyer-Vogt/Juvenile NCL/CLN3 disorder. Treatment is limited to reducing or controlling the symptoms of this disorder. Neurologists are able to help control seizures or nervous system complications. An ophthalmologist can monitor vision loss, and physical and occupational therapists can assist the affected individual to maintain muscle movement and reduce muscle discomfort.
Resources
Patient Groups:
Batten Disease Support and Research Association
166 Humphries Dr.
Reynoldsburg, OH 43068
www.bdsra.org
tel: (800) 448-4570
Lance Johnston, Executive Director