GENETIC HOMOGENEITY BETWEEN CHILDHOOD-ONSET AND ADULT-ONSET AUTOSOMAL RECESSIVE SPINAL MUSCULAR-ATROPHY

被引：95

作者：

BRAHE, C ^{[1
]}

SERVIDEI, S ^{[1
]}

ZAPPATA, S ^{[1
]}

RICCI, E ^{[1
]}

TONALI, P ^{[1
]}

NERI, G ^{[1
]}

机构：

[1] UNIV CATTOLICA SACRO CUORE, A GEMELLI SCH MED, NEUROL INST, I-00168 ROME, ITALY

来源：

LANCET | 1995年 / 346卷 / 8977期

关键词：

D O I：

10.1016/S0140-6736(95)91507-9

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Molecular diagnosis of childhood proximal spinal muscular atrophy has been enhanced by the discovery of the survival motor neuron (SMN) gene, which is absent or truncated in 98.6% of patients. To determine whether deletion analysis of the SMN gene may also be diagnostic for adult-onset disease, we studied six patients and found deletions in all. This finding will facilitate the diagnosis of adult-onset spinal muscular atrophy, and provides evidence for genetic homogeneity between the clinically diverse adult and childhood forms of the disease.

引用

页码：741 / 742

页数：2

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