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Genotype–phenotype relationships in familial amyotrophic lateral sclerosis with FUS/TLS mutations in Japan
Author(s) -
Akiyama Tetsuya,
Warita Hitoshi,
Kato Masaaki,
Nishiyama Ayumi,
Izumi Rumiko,
Ikeda Chikako,
Kamada Masaki,
Suzuki Naoki,
Aoki Masashi
Publication year - 2016
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.25061
Subject(s) - amyotrophic lateral sclerosis , sod1 , phenotype , genotype , pedigree chart , medicine , pathology , frontotemporal dementia , age of onset , mutation , biology , genetics , disease , gene , dementia
: 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 Nerve 54 : 398–404, 2016