The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy

被引：28

作者：

Scarano, V

Mancini, P

Criscuolo, C

De Michele, G

Rinaldi, C

Tucci, T

Tessa, A

Santorelli, FM

Perretti, A

Santoro, L

Filla, A

机构：

[1] Univ Naples Federico II, Dipartimento Sci Neurol, I-80131 Naples, Italy

[2] IRCCS, Bambino Gesu Hosp, Rome, Italy

来源：

JOURNAL OF NEUROLOGY | 2005年 / 252卷 / 08期

关键词：

hereditary spastic paraplegia; atlastin; dynamin; axonal neuropathy;

D O I：

10.1007/s00415-005-0768-1

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Mutations in the SPG3A gene cause a form of pure, early-onset autosomal dominant hereditary spastic paraplegia linked to chromosome 14q. The encoded protein, atlastin, is a putative member of the dynamin superfamily of large GTPases involved in cellular trafficking patterns. We report a new atlastin mutation causing spastic paraplegia in association with axonal neuropathy in an Italian family.

引用

页码：901 / 903

页数：3

共 10 条

[1] Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation [J].

Dalpozzo, F ;

Rossetto, MG ;

Boaretto, F ;

Sartori, E ;

Mostacciuolo, ML ;

Daga, A ;

Bassi, MT ;

Martinuzzi, A .

NEUROLOGY, 2003, 61 (04) :580-581

[2] Disruption of dynein/dynactin inhibits axonal transport in motor neurons causing late-onset progressive degeneration [J].

LaMonte, BH ;

Wallace, KE ;

Holloway, BA ;

Shelly, SS ;

Ascaño, J ;

Tokito, M ;

Van Winkle, T ;

Howland, DS ;

Holzbaur, ELF .

NEURON, 2002, 34 (05) :715-727

[3] The dynamin family of mechanoenzymes: pinching in new places [J].

McNiven, MA ;

Cao, H ;

Pitts, KR ;

Yoon, Y .

TRENDS IN BIOCHEMICAL SCIENCES, 2000, 25 (03) :115-120

[4] Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia [J].

Muglia, M ;

Magariello, A ;

Nicoletti, G ;

Patitucci, A ;

Gabriele, AL ;

Conforti, FL ;

Mazzei, R ;

Caracciolo, M ;

Ardito, B ;

Lastilla, M ;

Tedeschi, G ;

Quattrone, A .

ANNALS OF NEUROLOGY, 2002, 51 (06) :794-795

[5] A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10) [J].

Reid, E ;

Kloos, M ;

Ashley-Koch, A ;

Hughes, L ;

Bevan, S ;

Svenson, IK ;

Graham, FL ;

Gaskell, PC ;

Dearlove, A ;

Pericak-Vance, MA ;

Rubinsztein, DC ;

Marchuk, DA .

AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (05) :1189-1194

[6]

Sauter S M, 2004, Hum Mutat, V23, P98, DOI 10.1002/humu.9205

[7] An additional family carrying a new atlastin mutation [J].

Tessa, A ;

Casali, C ;

Damiano, M ;

Bruno, C ;

Fortini, D ;

Patrono, C ;

Cricchi, F ;

Valoppi, M ;

Nappi, G ;

Amabile, GA ;

Bertini, E ;

Santorelli, FM .

NEUROLOGY, 2002, 59 (12) :2002-2005

[8] Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bβ [J].

Zhao, C ;

Takita, J ;

Tanaka, Y ;

Setou, M ;

Nakagawa, T ;

Takeda, S ;

Yang, HW ;

Terada, S ;

Nakata, T ;

Takei, Y ;

Saito, M ;

Tsuji, S ;

Hayashi, Y ;

Hirokawa, N .

CELL, 2001, 105 (05) :587-597

[9] Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia [J].

Zhao, XP ;

Alvarado, D ;

Rainier, S ;

Lemons, R ;

Hedera, P ;

Weber, CH ;

Tukel, T ;

Apak, M ;

Heiman-Patterson, T ;

Ming, L ;

Bui, M ;

Fink, JK .

NATURE GENETICS, 2001, 29 (03) :326-331

[10] Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin [J].

Zhu, PP ;

Patterson, A ;

Lavoie, B ;

Stadler, J ;

Shoeb, M ;

Patel, R ;

Blackstone, C .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2003, 278 (49) :49063-49071

← 1 →