Batten disease [electronic resource] : diagnosis, treatment, and research / edited by Krystyna E. Wisniewski, Nanbert Zhong.

Contributor(s): Wisniewski, K. E. (Krystyna E.) | Zhong, NanbertMaterial type: Text

TextSeries: Advances in genetics ; v. 45.Publication details: San Diego : Academic Press, c2001. Description: 1 online resource (xiii, 243 p.) : illContent type: tekst Media type: computer Carrier type: online bronISBN: 9780080490311 (electronic bk.); 008049031X (electronic bk.); 0120176459 (electronic bk.); 9780120176458 (electronic bk.)Subject(s): Neuronal ceroid-lipofuscinosis | Neuronal Ceroid-Lipofuscinoses | Neuronal Ceroid-Lipofuscinoses -- genetics | HEALTH & FITNESS -- Diseases -- Alzheimer's & Dementia | MEDICAL -- Neurology | Genetica | Neuronal ceroid-lipofuscinosisGenre/Form: Electronic books.Additional physical formats: Print version:: Batten disease.DDC classification: 616.8/3 LOC classification: RC632.N47 | B38 2001ebNLM classification: W1 | WD 205.5.L5Other classification: 44.77 | 44.48 | 42.20 Online resources: ScienceDirect

Contents:

Neuronal ceroid lipofuscinoses: classification and diagnosis -- Cellular pathology and pathogenic aspects of neuronal ceroid lipofuscinoses -- Positional candidate gene cloning of CLN1 -- Biochemistry of neuronal ceroid lipofuscinoses -- Positional cloning of the JNCL gene, CLN3 -- Studies of homogenous populations: CLN5 and CLN8 -- Molecular genetic testing for neuronal ceroid lipofuscinoses -- Genetic counseling in the neuronal ceroid lipofuscinoses -- Neurotrophic factors as potential therapeutic agents in neuronal ceroid lipofuscinosis -- Animal models for the ceroid lipofuscinoses -- Experimental models of NCL: the yeast model -- Outlook for future treatment.

Summary: This title will present all current knowledge of Batten disease from research to clinical evaluation. NCL is not well recognized in underdeveloped countries because the diagnostic technology is lacking. With the information in this volume, however, a specific diagnosis of NCL could be made. Also, specific familial mutations obtained through genetic tests may guide prenatal diagnoses for at-risk families.

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Includes bibliographical references and index.

Description based on print version record.

This title will present all current knowledge of Batten disease from research to clinical evaluation. NCL is not well recognized in underdeveloped countries because the diagnostic technology is lacking. With the information in this volume, however, a specific diagnosis of NCL could be made. Also, specific familial mutations obtained through genetic tests may guide prenatal diagnoses for at-risk families.

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