PSEUDO-DOMINANT INHERITANCE OF A NOVEL CTSF MUTATION ASSOCIATED WITH TYPE B KUFS DISEASE

被引：26

作者：

Di Fabio, Roberto ^{[1
]}

Moro, Francesca ^{[2
]}

Pestillo, Liliana ^{[3
]}

Meschini, Maria C. ^{[4
]}

Pezzini, Francesco ^{[4
]}

Doccini, Stefano ^{[2
]}

Casali, Carlo ^{[1
]}

Pierelli, Francesco ^{[1
,5
]}

Simonati, Alessandro ^{[4
]}

Santorelli, Filippo M. ^{[2
]}

机构：

[1] Sapienza Univ Rome, Latina, Italy

[2] IRCCS Stella Maris, Pisa, Italy

[3] ASL Fondi LT, Pozzilli, Italy

[4] Univ Verona, I-37100 Verona, Italy

[5] IRCCS Neuromed, Pozzilli, IS, Italy

来源：

NEUROLOGY | 2014年 / 83卷 / 19期

关键词：

NEURONAL CEROID-LIPOFUSCINOSIS;

D O I：

10.1212/WNL.0000000000000953

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：1769 / 1770

页数：3

共 7 条

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

BERKOVIC, SF ;

CARPENTER, S ;

ANDERMANN, F ;

ANDERMANN, E ;

WOLFE, LS .

BRAIN, 1988, 111 :27-62

[2] Neuronal Ceroid Lipofuscinosis: Impact of Recent Genetic Advances and Expansion of the Clinicopathologic Spectrum [J].

Cotman, Susan L. ;

Karaa, Amel ;

Staropoli, John F. ;

Sims, Katherine B. .

CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS, 2013, 13 (08)

[3] N-terminally truncated forms of human cathepsin F accumulate in aggresome-like inclusions [J].

Jeric, Barbara ;

Dolenc, Iztok ;

Mihelic, Marko ;

Klaric, Martina ;

Zavasnik-Bergant, Tina ;

Guncar, Gregor ;

Turk, Boris ;

Turk, Vito ;

Stoka, Veronika .

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH, 2013, 1833 (10) :2254-2266

[4] The genetics and neuropathology of Alzheimer's disease [J].

Schellenberg, Gerard D. ;

Montine, Thomas J. .

ACTA NEUROPATHOLOGICA, 2012, 124 (03) :305-323

[5] Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis [J].

Smith, Katherine R. ;

Dahl, Hans-Henrik M. ;

Canafoglia, Laura ;

Andermann, Eva ;

Damiano, John ;

Morbin, Michela ;

Bruni, Amalia C. ;

Giaccone, Giorgio ;

Cossette, Patrick ;

Saftig, Paul ;

Groetzinger, Joachim ;

Schwake, Michael ;

Andermann, Frederick ;

Staropoli, John F. ;

Sims, Katherine B. ;

Mole, Sara E. ;

Franceschetti, Silvana ;

Alexander, Noreen A. ;

Cooper, Jonathan D. ;

Chapman, Harold A. ;

Carpenter, Stirling ;

Berkovic, Samuel F. ;

Bahlo, Melanie .

HUMAN MOLECULAR GENETICS, 2013, 22 (07) :1417-1423

[6] Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families [J].

Velinov, Milen ;

Dolzhanskaya, Natalia ;

Gonzalez, Michael ;

Powell, Eric ;

Konidari, Ioanna ;

Hulme, William ;

Staropoli, John F. ;

Xin, Winnie ;

Wen, Guang Y. ;

Barone, Rosemary ;

Coppel, Scott H. ;

Sims, Katherine ;

Brown, W. Ted ;

Zuechner, Stephan .

PLOS ONE, 2012, 7 (01)

[7] New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses [J].

Williams, Ruth E. ;

Mole, Sara E. .

NEUROLOGY, 2012, 79 (02) :183-191

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