Spinocerebellar Ataxia Type 3: A Case Report and Literature Review

被引：6

作者：

McCord, Matthew R. ^{[1
]}

Bigio, Eileen H. ^{[1
,2
]}

Kam, Kwok Ling ^{[1
]}

Fischer, Victoria ^{[1
]}

Obeidin, Farres ^{[1
]}

White, Charles L. ^{[3
]}

Brat, Daniel J. ^{[1
]}

Muller, William A. ^{[1
]}

Mao, Qinwen ^{[1
,2
]}

机构：

[1] Northwestern Univ, Dept Pathol, Feinberg Sch Med, 710 N Fairbanks Court,Olson 2-458, Chicago, IL 60611 USA

[2] Northwestern Univ, Mesulam Ctr Cognit Neurol & Alzheimers Dis, Feinberg Sch Med, Chicago, IL 60611 USA

[3] Univ Texas Southwestern Med Ctr Dallas, Dept Pathol, Dallas, TX USA

来源：

JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY | 2020年 / 79卷 / 06期

关键词：

CAG repeat; Cortical sparing; Inferior olivary nucleus; Machado-Joseph disease; Polyglutamine disease; Spinocerebellar ataxia type 3; MACHADO-JOSEPH-DISEASE; TRINUCLEOTIDE REPEATS; PROTEIN; NEURODEGENERATION; EXPANSIONS; MUTATIONS; FAMILIES; MODEL;

D O I：

10.1093/jnen/nlaa033

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Spinocerebellar ataxia type 3 (SCA3), also known by the eponym Machado-Joseph disease, is an autosomal dominant CAG trinucleotide (polyglutamine) repeat disease that presents in young- to middle-aged adults. SCA3 was first described in Azorean individuals and has interesting epidemiological patterns. It is characterized clinically by progressive ataxia and neuropathologically by progressive degenerative changes in the spinal cord and cerebellum, along with degeneration of the cortex and basal ganglia. Here, we describe the clinical and neuropathologic features in a case of SCA3 with unique findings, including involvement of the inferior olivary nucleus and cerebellar Purkinje cell layer, which are classically spared in the disease. We also discuss research into the disease mechanisms of SCA3 and the potential for therapeutic intervention.

引用

页码：641 / 646

页数：6

共 38 条

[1] Machado-Joseph Disease: from first descriptions to new perspectives [J].

Bettencourt, Conceicao ;

Lima, Manuela .

ORPHANET JOURNAL OF RARE DISEASES, 2011, 6

[2] An expanded glutamine repeat destabilizes native ataxin-3 structure and mediates parallel β-fibrils [J].

Bevivino, AE ;

Loll, PJ .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2001, 98 (21) :11955-11960

[3] Reversibility of symptoms in a conditional mouse model of spinocerebellar ataxia type 3 [J].

Boy, Jana ;

Schmidt, Thorsten ;

Wolburg, Hartwig ;

Mack, Andreas ;

Nuber, Silke ;

Boettcher, Martin ;

Schmitt, Ina ;

Holzmann, Carsten ;

Zimmermann, Frank ;

Servadio, Antonio ;

Riess, Olaf .

HUMAN MOLECULAR GENETICS, 2009, 18 (22) :4282-4295

[4]

Budworth Helen, 2013, Methods Mol Biol, V1010, P3, DOI 10.1007/978-1-62703-411-1_1

[5] Autosomal dominant cerebellar ataxia type I - Clinical features and MRT in families with SCA1, SCA2 and SCA3 [J].

Burk, K ;

Abele, M ;

Fetter, M ;

Dichgans, J ;

Skalej, M ;

Laccone, F ;

Didierjean, O ;

Brice, A ;

Klockgether, T .

BRAIN, 1996, 119 :1497-1505

[6] Cerebral cortex involvement in Machado-Joseph disease [J].

de Rezende, T. J. R. ;

D'Abreu, A. ;

Guimaraes, R. P. ;

Lopes, T. M. ;

Lopes-Cendes, I. ;

Cendes, F. ;

Castellano, G. ;

Franca, M. C., Jr. .

EUROPEAN JOURNAL OF NEUROLOGY, 2015, 22 (02) :277-+

[7] ELOVLS Mutations Cause Spinocerebellar Ataxia 38 [J].

Di Gregorio, Eleonora ;

Borroni, Barbara ;

Giorgio, Elisa ;

Lacerenza, Daniela ;

Ferrero, Marta ;

Lo Buono, Nicola ;

Ragusa, Neftj ;

Mancini, Cecilia ;

Gaussen, Marion ;

Calcia, Alessandro ;

Mitro, Nico ;

Hoxha, Eriola ;

Mura, Isabella ;

Coviello, Domenico A. ;

Moon, Young-Ah ;

Tesson, Christelle ;

Vaula, Giovanna ;

Couarch, Philippe ;

Orsi, Laura ;

Duregon, Eleonora ;

Papotti, Mauro Giulio ;

Deleuze, Jean-Francois ;

Imbert, Jean ;

Costanzi, Chiara ;

Padovani, Alessandro ;

Giunti, Paola ;

Maillet-Vioud, Marcel ;

Durr, Alexandra ;

Brice, Alexis ;

Tempia, Filippo ;

Funaro, Ada ;

Boccone, Loredana ;

Caruso, Donatella ;

Stevanin, Giovanni ;

Brusco, Alfredo .

AMERICAN JOURNAL OF HUMAN GENETICS, 2014, 95 (02) :209-217

[8] Spinocerebellar ataxia 3 and Machado-Joseph disease: Clinical, molecular, and neuropathological features [J].

Durr, A ;

Stevanin, G ;

Cancel, G ;

Duyckaerts, C ;

Abbas, N ;

Didierjean, O ;

Chneiweiss, H ;

Benomar, A ;

LyonCaen, O ;

Julien, J ;

Serdaru, M ;

Penet, C ;

Agid, Y ;

Brice, A .

ANNALS OF NEUROLOGY, 1996, 39 (04) :490-499

[9] Polyglutamine (PolyQ) Diseases: Genetics to Treatments [J].

Fan, Hueng-Chuen ;

Ho, Li-Ing ;

Chi, Ching-Shiang ;

Chen, Shyi-Jou ;

Peng, Giia-Sheun ;

Chan, Tzu-Min ;

Lin, Shinn-Zong ;

Harn, Horng-Jyh .

CELL TRANSPLANTATION, 2014, 23 (4-5) :441-458

[10] A mutant ataxin-3 putative-cleavage fragment in brains of Machado-Joseph disease patients and transgenic mice is cytotoxic above a critical concentration [J].

Goti, D ;

Katzen, SM ;

Mez, J ;

Kurtis, N ;

Kiluk, J ;

Ben-Haïem, L ;

Jenkins, NA ;

Copeland, NG ;

Kakizuka, A ;

Sharp, AH ;

Ross, CA ;

Mouton, PR ;

Colomer, V .

JOURNAL OF NEUROSCIENCE, 2004, 24 (45) :10266-10279

← 1 2 3 4 →