Disease Information for Juvenile ceroid lipofuscinosis/Batten-M

Batten Disease; Batten-Mayou Syndrome; Batten-Spielmeyer-Vogt"s Disease; Batten-Vogt Syndrome; Neuronal Ceroid Lipofuscinosis, Juvenile Type; Spielmeyer-Vogt Disease;

Spielmeyer-Vogt-Batten Syndrome; Stengel"s Syndrome;

Stengel-Batten-Mayou-Spielmeyer-Vogt-Stock Disease;

Batten disease is the juvenile form of a group of progressive neurological diseases known as neuronal ceroid lipofuscinoses (NCL);It is characterized by accumulation of a fatty substance (lipopigment) in the brain as well as in tissue that does not contain nerve cells; This lipopigment storage disorder is inherited, and is marked by rapidly progressive vision failure (optic atrophy), and neurological disturbances, which may begin before eight years of age; Occurring mostly in families of Northern European Scandinavian ancestry, the disorder affects the brain and may cause both deterioration of intellect and neurological functions.[NORD 2005]--------------------------------------

AKA Curschmann-Batten-Steinert syndrome;Batten-Gibb syndrome;Batten-Steinert syndrome; Curschmann-Batten syndrome;Curschmann-Steinert syndrome;

Curschmann-Steinert-Batten disease;

Rossolimo-Curschmann-Batten-Steinert myotinic dystrophy

Rossolimo-Curschmann-Batten-Steinert syndrome;

Steinert’s disease; Steinert’s myotonic dystrophy

both homozygotes and heterozygotes can be identified on the basis of metachromasia in skin fibroblasts in cell culture; y polyacrylamide gel electrophoresis neuronal ceroid lipofuscinoses correct diagnosis of disease type requires ultrastructural examination of a patient"s cells; NCL is characterized by fingerprint profiles, with or without curvilinear profiles; Prenatal Diagnosis some used PCR to identify the intragenic microsatellite marker D16S298 to make the prenatal diagnosis of Batten disease on the basis of a chorionic villus sample. [OMIM/NIH 2005]

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