Classification and Natural History of the Neuronal Ceroid Lipofuscinoses

被引：91

作者：

Mink, Jonathan W. ^{[1
]}

Augustine, Erika F. ^{[1
]}

Adams, Heather R. ^{[1
]}

Marshall, Frederick J. ^{[1
]}

Kwon, Jennifer M. ^{[1
]}

机构：

[1] Univ Rochester, Sch Med & Dent, Dept Neurol, Rochester, NY 14642 USA

来源：

JOURNAL OF CHILD NEUROLOGY | 2013年 / 28卷 / 09期

关键词：

Batten disease; neurodegeneration; blindness; dementia; epilepsy; movement disorders; PROTEIN THIOESTERASE DEFICIENCY; BATTEN-DISEASE; INFANTILE TYPE; KUFS-DISEASE; MUTATIONS; JUVENILE; VARIANT; FORM; PHENOTYPE; GENOTYPE;

D O I：

10.1177/0883073813494268

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The neuronal ceroid lipofuscinoses represent a group of disorders characterized by neurodegeneration and intracellular accumulation of an auto-fluorescent lipopigment (ceroid lipofuscin). Together, they represent the most prevalent class of childhood neurodegenerative disease. The neuronal ceroid lipofuscinoses encompass several distinct biological entities that vary in age of onset, specific neurologic phenotype, and rate of progression. In this review, we describe 9 major forms and present a classification scheme. Understanding the age of onset, clinical features, and natural history can inform rational diagnostics. Better knowledge of the natural histories of these disorders is necessary to shed light on the underlying pathobiology and to develop new therapeutics.

引用

页码：1101 / 1105

页数：5

共 45 条

[1] Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease) [J].

Adams, Heather R. ;

Beck, Christopher A. ;

Levy, Erika ;

Jordan, Rachel ;

Kwon, Jennifer M. ;

Marshall, Frederick J. ;

Vierhile, Amy ;

Augustine, Erika F. ;

De Blieck, Elisabeth A. ;

Pearce, David A. ;

Mink, Jonathan W. .

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2010, 52 (07) :637-643

[2]

[Anonymous], 1826, EYR MED TIDSKR

[3] Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6 [J].

Arsov, Todor ;

Smith, Katherine R. ;

Damiano, John ;

Franceschetti, Silvana ;

Canafoglia, Laura ;

Bromhead, Catherine J. ;

Andermann, Eva ;

Vears, Danya F. ;

Cossette, Patrick ;

Rajagopalan, Sulekha ;

McDougall, Alan ;

Sofia, Vito ;

Farrell, Michael ;

Aguglia, Umberto ;

Zini, Andrea ;

Meletti, Stefano ;

Morbin, Michela ;

Mullen, Saul ;

Andermann, Frederick ;

Mole, Sara E. ;

Bahlo, Melanie ;

Berkovic, Samuel F. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2011, 88 (05) :566-573

[4]

Batten F., 1903, Transactions of the Ophthalmological Societies of the United Kingdom, V23, P386

[5] CLINICAL, MORPHOLOGICAL, AND BIOCHEMICAL INVESTIGATIONS ON A PATIENT WITH AN UNUSUAL FORM OF NEURONAL CEROID-LIPOFUSCINOSIS [J].

BECKER, K ;

GOEBEL, HH ;

SVENNERHOLM, L ;

WENDEL, U ;

BREMER, HJ .

EUROPEAN JOURNAL OF PEDIATRICS, 1979, 132 (03) :197-206

[6]

Berkovic S F, 1988, Am J Med Genet Suppl, V5, P105

[7] KUFS DISEASE - A CRITICAL REAPPRAISAL [J].

BERKOVIC, SF ;

CARPENTER, S ;

ANDERMANN, F ;

ANDERMANN, E ;

WOLFE, LS .

BRAIN, 1988, 111 :27-62

[8]

Bielschowsky M., 1913, Dtsch Z Nervenheilk, V50, P7

[9] DOMINANT FORM OF NEURONAL CEROID-LIPOFUSCINOSIS [J].

BOEHME, DH ;

COTTRELL, JC ;

LEONBERG, SC ;

ZEMAN, W .

BRAIN, 1971, 94 :745-&

[10]

Brodsky M, 1996, Pediatric Neuro-Ophthalmology

← 1 2 3 4 5 →