Batten disease


Batten disease

 [bat´en] Vogt-Spielmeyer disease.more generally, any or all of the group of disorders constituting neuronal ceroid lipofuscinosis.

Bat·ten dis·ease

(bat'ĕn), cerebral sphingolipidosis, late juvenile type. Synonym(s): ceroid lipofuscinosis

Batten disease

(băt′n)n. Any of the various types of neuronal ceroid lipofuscinosis, especially the juvenile type with onset typically between ages four and eight (also known as Spielmeyer-Vogt disease).

Batten disease

A rare autosomal recessive neurodegenerative condition which is the most common form of the eight known neuronal ceroid lipofuscinoses. Batten disease is caused by a mutation in CLN3, a gene on chromosome 16 that encodes battenin, a protein involved in lysosomal function.
Clinical findings
Blindness, seizures, dementia, cerebral atrophy, death before age 20.

Bat·ten dis·ease

(bat'ĕn di-zēz') Fatal autosomal recessive trait with onset between 5-9 years of age, marked by early symptoms, which progress to blindness, paralysis, and dementia.

Batten,

Frederick Eustace, English ophthalmologist, 1865-1918. Batten disease - cerebral sphingolipidosis, late infantile and juvenile types. Synonym(s): Batten-Mayou disease; Spielmeyer-Stock disease; Spielmeyer-Vogt disease; Vogt-Spielmeyer diseaseBatten-Mayou disease - Synonym(s): Batten diseaseCurschmann-Batten-Steinert syndrome - see under Curschmann

Spielmeyer,

Walter, German neurologist, 1879-1935. Spielmeyer acute swelling - a form of degeneration of nerve cells in which the cell body and its processes swell and stain palely and diffusely.Spielmeyer-Stock disease - Synonym(s): Batten diseaseSpielmeyer-Vogt disease - Synonym(s): Batten diseaseVogt-Spielmeyer disease - Synonym(s): Batten disease