Unknown

Dataset Information

0

Gender Effects on the Clinical Phenotype in Japanese Patients with Spinal Muscular Atrophy.

ABSTRACT: Spinal muscular atrophy (SMA) is a neuromuscular disease caused by a mutation in SMN1. SMA is classified into three subtypes (types 1, 2, 3) based on achieved motor milestones. Although NAIP and SMN2 are widely accepted as SMA-modifying factors, gender-related modifying factors or gender effects on the clinical phenotype are still controversial.A total of 122 Japanese patients with SMA, of which SMN1 was homozygously deleted, were analyzed from the perspective of the achieved motor milestone, NAIP status and SMN2 copy number.A predominance of male patients was observed in SMA type 3 (the walker group) without NAIP-deletion or with high SMN2 copy number (3 or 4 copies).We suggest the presence of gender-related modifiers on disease severity in SMA patients. The modifiers may contribute only in the presence of NAIP and a high copy number of SMN2.

SUBMITTER: Ar Rochmah M 

PROVIDER: S-EPMC5826018 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

<h4>Background</h4>Spinal muscular atrophy (SMA) is a neuromuscular disease caused by a mutation in SMN1. SMA is classified into three subtypes (types 1, 2, 3) based on achieved motor milestones. Although NAIP and SMN2 are widely accepted as SMA-modifying factors, gender-related modifying factors or gender effects on the clinical phenotype are still controversial.<h4>Methods</h4>A total of 122 Japanese patients with SMA, of which SMN1 was homozygously deleted, were analyzed from the perspective  ...[more]

Similar Datasets

Unknown Genotype-phenotype correlation in Chinese patients with spinal and bulbar muscular atrophy.
| S-EPMC4374859 | biostudies-literature
Unknown Clinical and Genetic Study of Algerian Patients with Spinal Muscular Atrophy.
| S-EPMC4437343 | biostudies-literature
Unknown Spinal muscular atrophy.
| S-EPMC4514700 | biostudies-other
Unknown Clinical features of spinal and bulbar muscular atrophy.
| S-EPMC2792370 | biostudies-literature
Unknown Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance.
| S-EPMC7846873 | biostudies-literature
Unknown Spinal and bulbar muscular atrophy: pathogenesis and clinical management.
| S-EPMC4284073 | biostudies-literature
Unknown Clinical Evidence Supporting Early Treatment Of Patients With Spinal Muscular Atrophy: Current Perspectives.
| S-EPMC6778729 | biostudies-literature
Unknown A large animal model of spinal muscular atrophy and correction of phenotype.
| S-EPMC4453930 | biostudies-other
Proteomics Cerebrospinal fluid proteomic profiling in nusinersen-treated patients with spinal muscular atrophy Cerebrospinal fluid proteomic profiling in nusinersen-treated patients with spinal muscular atrophy
2020-01-07 | PXD016757 | Pride
Unknown Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy.
| S-EPMC10352921 | biostudies-literature