Journal
MUSCLE & NERVE
Volume 54, Issue 3, Pages 398-404Publisher
WILEY
DOI: 10.1002/mus.25061
Keywords
amyotrophic lateral sclerosis; frontotemporal dementia; fused in sarcoma; translated in liposarcoma; genetic predisposition to disease; phenotype; prospective studies
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Funding
- Research Committee on Establishment of Novel Treatments for Amyotrophic Lateral Sclerosis
- Research Committee of CNS Degenerative Diseases of the Ministry of Health, Labour and Welfare of Japan
- Japanese Ministry of Education, Culture, Sports, Science and Technology [25293199, 26461288]
- Ministry of Health, Labour and Welfare of Japan [201238002A]
- [20B-13]
- Grants-in-Aid for Scientific Research [15H05667, 25293199, 26461288] Funding Source: KAKEN
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Introduction: We investigated possible genotype-phenotype correlations in Japanese patients with familial amyotrophic lateral sclerosis (FALS) carrying fused in sarcoma/translated in liposarcoma (FUS/TLS) gene mutations. Methods: A consecutive series of 111 Japanese FALS pedigrees were screened for copper/zinc superoxide dismutase 1 (SOD1) and FUS/TLS gene mutations. Clinical data, including onset age, onset site, disease duration, and extramotor symptoms, were collected. Results: Nine different FUS/TLS mutations were found in 12 pedigrees. Most of the patients with FUS/TLS-linked FALS demonstrated early onset in the brainstem/upper cervical region, and relatively short disease duration. A few mutations exhibited phenotypes that were distinct from typical cases. Frontotemporal dementia was present in 1 patient. Conclusions: This study revealed a characteristic phenotype in FUS/TLS-linked FALS patients in Japan. FUS/TLS screening is recommended in patients with FALS with this phenotype. Muscle Nerve54: 398-404, 2016
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