Spinal muscular atrophy: Clinical classification and disease heterogeneity

被引：165

作者：

Russman, Barry S.

机构：

[1] Shriners Hosp Children, Portland, OR 97201 USA

[2] Oregon Hlth & Sci Univ, Dept Neurol, Portland, OR 97201 USA

来源：

JOURNAL OF CHILD NEUROLOGY | 2007年 / 22卷 / 08期

关键词：

spinal muscular atrophy; anterior horn cell; SMN1; gene;

D O I：

10.1177/0883073807305673

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The clinical classification of spinal muscular atrophy, caused by deletion of the survival motor neuron I gene (SMNI), is based on age at onset and maximum function achieved. Evidence suggests that maximum function achieved is more closely related to life expectancy than age at onset. Therefore, it is important to wait for a period before assigning a patient to I of 5 classes of the disorder. Several diseases result from degeneration of the anterior horn cell but are not caused by SMN1. The classification for these conditions is evolving. This article offers an attempt at organizing one's thinking about this disease group.

引用

页码：946 / 951

页数：6

共 46 条

[1] Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V [J].

Antonellis, A ;

Ellsworth, RE ;

Sambuughin, N ;

Puls, I ;

Abel, A ;

Lee-Lin, SQ ;

Jordanova, A ;

Kremensky, I ;

Christodoulou, K ;

Middleton, LT ;

Sivakumar, K ;

Ionasescu, V ;

Funalot, B ;

Vance, JM ;

Goldfarb, LG ;

Fischbeck, KH ;

Green, ED .

AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (05) :1293-1299

[2] DUCHENNE MUSCULAR-DYSTROPHY - PATTERNS OF CLINICAL PROGRESSION AND EFFECTS OF SUPPORTIVE THERAPY [J].

BROOKE, MH ;

FENICHEL, GM ;

GRIGGS, RC ;

MENDELL, JR ;

MOXLEY, R ;

FLORENCE, J ;

KING, WM ;

PANDYA, S ;

ROBISON, J ;

SCHIERBECKER, J ;

SIGNORE, L ;

MILLER, JP ;

GILDER, BF ;

KAISER, KK ;

MANDEL, S ;

ARFKEN, C .

NEUROLOGY, 1989, 39 (04) :475-481

[3] GENETIC-MAPPING OF CHRONIC CHILDHOOD-ONSET SPINAL MUSCULAR-ATROPHY TO CHROMOSOME-5Q11.2-13.3 [J].

BRZUSTOWICZ, LM ;

LEHNER, T ;

CASTILLA, LH ;

PENCHASZADEH, GK ;

WILHELMSEN, KC ;

DANIELS, R ;

DAVIES, KE ;

LEPPERT, M ;

ZITER, F ;

WOOD, D ;

DUBOWITZ, V ;

ZERRES, K ;

HAUSMANOWAPETRUSEWICZ, I ;

OTT, J ;

MUNSAT, TL ;

GILLIAM, TC .

NATURE, 1990, 344 (6266) :540-541

[4] Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association [J].

Burglen, L ;

Amiel, J ;

Viollet, L ;

Lefebvre, S ;

Burlet, P ;

Clermont, O ;

Raclin, V ;

Landrieu, P ;

Verloes, A ;

Munnich, A ;

Melki, J .

JOURNAL OF CLINICAL INVESTIGATION, 1996, 98 (05) :1130-1132

[5] INFANTILE MUSCULAR ATROPHY [J].

BYERS, RK ;

BANKER, BQ .

ARCHIVES OF NEUROLOGY, 1961, 5 (02) :140-&

[6]

CHOU SM, 1990, CLIN NEUROPATHOL, V9, P21

[7] Infantile spinal muscular atrophy variant with congenital fractures in a female neonate: evidence for autosomal recessive inheritance [J].

Courtens, W ;

Johansson, AB ;

Dachy, B ;

Avni, F ;

Telerman-Toppet, N ;

Scheffer, H .

JOURNAL OF MEDICAL GENETICS, 2002, 39 (01) :74-77

[8] Scapuloperoneal amyotrophy [J].

Davidenkow, S .

ARCHIVES OF NEUROLOGY AND PSYCHIATRY, 1939, 41 (04) :694-701

[9] Autosomal dominant distal spinal muscular atrophy: an Italian family not linked to 12q24 and 7p14 [J].

De Angelis, MV ;

Gatta, V ;

Stuppia, L ;

Passamonti, L ;

Gambi, D ;

Uncini, A .

NEUROMUSCULAR DISORDERS, 2002, 12 (01) :26-30

[10] Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease [J].

Dipti, S ;

Childs, AM ;

Livingston, JH ;

Aggarwal, AK ;

Miller, M ;

Williams, C ;

Crow, YJ .

BRAIN & DEVELOPMENT, 2005, 27 (06) :443-446

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