Heterozygous S44L missense change of the spastin gene in amyotrophic lateral sclerosis

被引：17

作者：

Muench, Christoph ^{[2
,3
]}

Rolfs, Arndt

Meyer, Thomas ^{[1
]}

机构：

[1] Humboldt Univ, Charite Univ Hosp, Dept Neurol, D-13353 Berlin, Germany

[2] Jewish Hosp Berlin, Dept Neurol, Berlin, Germany

[3] Univ Ulm, Dept Neurol, D-7900 Ulm, Germany

来源：

AMYOTROPHIC LATERAL SCLEROSIS | 2008年 / 9卷 / 04期

关键词：

amyotrophic lateral sclerosis; spastin; missense S44L; hereditary spastic paraplegia;

D O I：

10.1080/17482960801900172

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The authors present a 50-year-old patient with adult-onset amyotrophic lateral sclerosis (ALS) that was rapidly progressing. Screening of the spastin gene revealed a heterozygous missense change S44L. We excluded the involvement of the ALS-linked gene for copper/zinc superoxide dismutase (SOD1). This unusual phenotype shows that allelic variants of spastin may predispose bearers to a greater spectrum of motor neuron disorders including ALS.

引用

页码：251 / 253

页数：3

共 16 条

[1] EL-ESCORIAL WORLD FEDERATION OF NEUROLOGY CRITERIA FOR THE DIAGNOSIS OF AMYOTROPHIC-LATERAL-SCLEROSIS [J].

BROOKS, BR .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 1994, 124 :96-107

[2] Spastin mutations in sporadic adult-onset upper motor neuron syndromes [J].

Brugman, F ;

Wokke, JHJ ;

Scheffer, H ;

Versteeg, MHA ;

Sistermans, EA ;

van den Berg, LH .

ANNALS OF NEUROLOGY, 2005, 58 (06) :865-869

[3] DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4) [J].

Chen, YZ ;

Bennett, CL ;

Huynh, HM ;

Blair, IP ;

Puls, I ;

Irobi, J ;

Dierick, I ;

Abel, A ;

Kennerson, ML ;

Rabin, BA ;

Nicholson, GA ;

Auer-Grumbach, M ;

Wagner, K ;

De Jonghe, P ;

Griffin, JW ;

Fischbeck, KH ;

Timmerman, V ;

Cornblath, DR ;

Chance, PF .

AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 74 (06) :1128-1135

[4] Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene [J].

Chinnery, PF ;

Keers, SM ;

Holden, MJ ;

Ramesh, V ;

Dalton, A .

NEUROLOGY, 2004, 63 (04) :710-712

[5] Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases [J].

Depienne, C ;

Tallaksen, C ;

Lephay, JY ;

Bricka, B ;

Poea-Guyon, S ;

Fontaine, B ;

Labauge, P ;

Brice, A ;

Durr, A .

JOURNAL OF MEDICAL GENETICS, 2006, 43 (03) :259-265

[6] The hereditary spastic paraplegias - Nine genes and counting [J].

Fink, JK .

ARCHIVES OF NEUROLOGY, 2003, 60 (08) :1045-1049

[7] Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia [J].

Fonknechten, N ;

Mavel, D ;

Byrne, P ;

Davoine, CS ;

Cruaud, C ;

Boentsch, D ;

Samson, D ;

Coutinho, P ;

Hutchinson, M ;

McMonagle, P ;

Burgunder, JM ;

Tartaglione, A ;

Heinzlef, O ;

Feki, I ;

Deufel, T ;

Parfrey, N ;

Brice, A ;

Fontaine, B ;

Prud'homme, JF ;

Weissenbach, J ;

Dürr, A ;

Hazan, J .

HUMAN MOLECULAR GENETICS, 2000, 9 (04) :637-644

[8] Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia [J].

Hazan, J ;

Fonknechten, N ;

Mavel, D ;

Paternotte, C ;

Samson, D ;

Artiguenave, F ;

Davoine, CS ;

Cruaud, C ;

Dürr, A ;

Wincker, P ;

Brottier, P ;

Cattolico, L ;

Barbe, V ;

Burgunder, JM ;

Prud'homme, JF ;

Brice, A ;

Fontaine, B ;

Heilig, R ;

Weissenbach, J .

NATURE GENETICS, 1999, 23 (03) :296-303

[9] Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis [J].

Lindsey, JC ;

Lusher, ME ;

McDermott, CJ ;

White, KD ;

Reid, E ;

Rubinsztein, DC ;

Bashir, R ;

Hazan, J ;

Shaw, PJ ;

Bushby, KMD .

JOURNAL OF MEDICAL GENETICS, 2000, 37 (10) :759-765

[10] Clinical features of hereditary spastic paraplegia due to spastin mutation [J].

McDermott, C. J. ;

Burness, C. E. ;

Kirby, J. ;

Cox, L. E. ;

Rao, D. G. ;

Hewamadduma, C. ;

Sharrack, B. ;

Hadjivassiliou, M. ;

Chinnery, P. F. ;

Dalton, A. ;

Shaw, P. J. .

NEUROLOGY, 2006, 67 (01) :45-51

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