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Publication year
2008Source
Journal of Neurology, 255, 9, (2008), pp. 1400-4ISSN
Publication type
Article / Letter to editor
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Organization
Human Genetics
Neurology
Radboudumc Extern
Journal title
Journal of Neurology
Volume
vol. 255
Issue
iss. 9
Page start
p. 1400
Page end
p. 4
Subject
DCN 2: Functional Neurogenomics; IGMD 3: Genomic disorders and inherited multi-system disorders; NCEBP 10: Human Movement & Fatigue; UMCN 3.1: Neuromuscular development and genetic disorders; UMCN 5.1: Genetic defects of metabolismAbstract
BACKGROUND: Spinal muscular atrophy (SMA) is caused by a homozygous deletion of the survival motor neuron (SMN)1 gene. The nearly identical SMN2 gene plays a disease modifying role. SMA is classified into four different subtypes based on age of onset and clinical course (SMA types 1-4). The natural history of early onset SMA types 1-3a has been studied extensively. Late onset SMA is rare and disease course has not been studied in detail. OBJECTIVE: To perform a prospective study on the clinical course and the correlation with SMN2 copy numbers of late onset SMA. METHODS: Patients fulfilling the diagnostic criteria for late onset SMA (types 3b and 4) were included in the study. At inclusion and follow-up, muscle strength, respiratory function, functional status and quality of life were assessed. SMN2 copy number was determined in all patients. RESULTS: Twelve patients were identified and included. Six patients were siblings from one family, two patients were brothers from a second family and four patients were sporadic cases. All patients carried four copies of the SMN2 gene. Median age of disease onset was 22.2 years (10-37). Age of disease onset in patients from family one was lower as compared to the other patients. None of the outcome measures changed after a follow-up of 2.5 years. Five patients reported an increase in fatigue and muscle weakness. None of the patients showed symptoms of respiratory insufficiency. CONCLUSIONS: This study indicates that late onset SMA is not characterized by disease progression and that alternative or surrogate disease markers are required for the design of future trials. This study confirms the finding that SMN2 copy number is a SMA disease course modifier.
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- Electronic publications [122512]
- Faculty of Medical Sciences [90359]
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