Co-occurrence of amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease type 2A in a patient with a novel mutation in the mitofusin-2 gene

被引：19

作者：

Marchesi, Chiara

Ciano, Claudia

Salsano, Ettore

Nanetti, Lorenzo

Milani, Micaela ^{[2
]}

Gellera, Cinzia ^{[2
]}

Taroni, Franco ^{[2
]}

Fabrizi, Gian Maria ^{[3
]}

Uncini, Antonino ^{[4
,5
]}

Pareyson, Davide ^{[1
]}

机构：

[1] IRCCS Fdn, Dept Clin Neurosci, Unit Clin Cent & Peripheral Degenerat Neuropathie, Besta Neurol Inst C, I-20133 Milan, Italy

[2] IRCCS Fdn, Unit Genet Neurodegenerat & Metab Dis, Besta Neurol Inst C, I-20133 Milan, Italy

[3] Univ Verona, Sect Clin Neurol, Dept Neurol & Visual Sci, I-37100 Verona, Italy

[4] Univ G DAnnunzio Fdn, Inst Aging CeSI, Dept Human Motor Sci, Chieti, Italy

[5] Univ G DAnnunzio Fdn, Inst Aging CeSI, Neurodegenerat Dis Unit, Chieti, Italy

来源：

NEUROMUSCULAR DISORDERS | 2011年 / 21卷 / 02期

关键词：

Charcot-Marie-Tooth neuropathy; Amyotrophic Lateral Sclerosis; CMT2A; Mitofusin-2; Motor neuron disease; MFN2; MUTATIONS; NEUROPATHY;

D O I：

10.1016/j.nmd.2010.09.009

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Mitofusin-2 gene (MFN2) mutations cause Charcot-Marie-Tooth type 2A (CMT2A), sometimes complicated by additional features such as optic atrophy, hearing loss, upper motor neuron signs and cerebral white-matter abnormalities. Here we report, for the first time, the occurrence of motor neuron disease, consistent with amyotrophic lateral sclerosis (ALS), in a 62-year-old woman affected by early-onset slowly progressive CMT2A, due to a novel MFN2 mutation. After age 60, rate of disease progression changed and she rapidly developed generalised muscle wasting, weakness, and fasciculations, together with dysarthria and dysphagia. Clinical features, EMG findings, and fast progression were consistent with ALS superimposed on CMT. (C) 2010 Elsevier By. All rights reserved.

引用

页码：129 / 131

页数：3

共 9 条

[1] Mitochondrial GTPase mitofusin 2 mutations in Korean patients with Charcot-Marie-Tooth neuropathy type 2 [J].

Cho, H-J ;

Sung, D. H. ;

Kim, B. J. ;

Ki, C-S .

CLINICAL GENETICS, 2007, 71 (03) :267-272

[2] Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations [J].

Chung, K. W. ;

Kim, S. B. ;

Park, K. D. ;

Choi, K. G. ;

Lee, J. H. ;

Eun, H. W. ;

Suh, J. S. ;

Hwang, J. H. ;

Kim, W. K. ;

Seo, B. C. ;

Kim, S. H. ;

Son, I. H. ;

Kim, S. M. ;

Sunwoo, I. N. ;

Choi, B. O. .

BRAIN, 2006, 129 :2103-2118

[3] Mechanisms of disease and clinical features of mutations of the gene for mitofusin 2: an important cause of hereditary peripheral neuropathy with striking clinical variability in children and adults [J].

Ouvrier, Robert ;

Grew, Simon .

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2010, 52 (04) :328-330

[4] Hereditary predominantly motor neuropathies [J].

Pareyson, Davide ;

Marchesi, Chiara ;

Salsano, Ettore .

CURRENT OPINION IN NEUROLOGY, 2009, 22 (05) :451-459

[5] MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2 [J].

Verhoeven, Kristien ;

Claeys, Kristl G. ;

Zuchner, Stephan ;

Schroder, J. Michael ;

Weis, Joachim ;

Ceuterick, Chantal ;

Jordanova, Albena ;

Nelis, Eva ;

De Vriendt, Els ;

Van Hul, Matthias ;

Seeman, Pavel ;

Mazanec, Radim ;

Saifi, Gulam Mustafa ;

Szigeti, Kinga ;

Mancias, Pedro ;

Butler, Ian J. ;

Kochanski, Andrzej ;

Ryniewicz, Barbara ;

De Bleecker, Jan ;

Van den Bergh, Peter ;

Verellen, Christine ;

Van Coster, Rudy ;

Goemans, Nathalie ;

Auer-Grumbach, Michaela ;

Robberecht, Wim ;

Rasic, Vedrana Milic ;

Nevo, Yoram ;

Tournev, Ivajlo ;

Guergueltcheva, Velina ;

Roelens, Filip ;

Vieregge, Peter ;

Vinci, Paolo ;

Moreno, Maria Teresa ;

Christen, H-J. ;

Shy, Michael E. ;

Lupski, James R. ;

Vance, Jeffery M. ;

De Jonghe, Peter ;

Timmerman, Vincent .

BRAIN, 2006, 129 :2093-2102

[6] Amyotrophic lateral sclerosis [J].

Wijesekera, Lokesh C. ;

Leigh, P. Nigel .

ORPHANET JOURNAL OF RARE DISEASES, 2009, 4

[7] Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous:: Families with and without MFN2 mutations [J].

Zhu, D ;

Kennerson, ML ;

Walizada, G ;

Zücher, S ;

Vance, JM ;

Nicholson, GA .

NEUROLOGY, 2005, 65 (03) :496-497

[8] Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A [J].

Züchner, S ;

Mersiyanova, IV ;

Muglia, M ;

Bissar-Tadmouri, N ;

Rochelle, J ;

Dadali, EL ;

Zappia, M ;

Nelis, E ;

Patitucci, A ;

Senderek, J ;

Parman, Y ;

Evgrafov, O ;

De Jonghe, P ;

Takahashi, Y ;

Tsuji, S ;

Pericak-Vance, MA ;

Quattrone, A ;

Battologlu, E ;

Polyakov, AV ;

Timmerman, V ;

Schröder, JM ;

Vance, JM .

NATURE GENETICS, 2004, 36 (05) :449-451

[9] Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2 [J].

Züchner, S ;

De Jonghe, P ;

Jordanova, A ;

Claeys, KG ;

Guergueltcheva, V ;

Cherninkova, S ;

Hamilton, SR ;

Van Stavern, G ;

Krajewski, KM ;

Stajich, J ;

Tournev, I ;

Verhoeven, K ;

Langerhorst, CT ;

de Visser, M ;

Baas, F ;

Bird, T ;

Timmerman, V ;

Shy, M ;

Vance, JM .

ANNALS OF NEUROLOGY, 2006, 59 (02) :276-281

← 1 →