A Japanese ALS6 family with mutation R521C in the FUS/TLS gene: A clinical, pathological and genetic report
| Autor: | Etsuro Matsubara, Masaki Ikeda, Yoichi Nakazato, Mandy Jackson, Yukiko Yamamoto-Watanabe, Takeshi Kawarabayashi, Yoshio Ikeda, Koichi Okamoto, Mitsunori Watanabe, Yukio Fujita, Mikio Shoji |
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| Rok vydání: | 2010 |
| Předmět: |
Adult
Male Proband Weakness Pathology medicine.medical_specialty Central nervous system disease Atrophy Japan medicine Humans Age of Onset Amyotrophic lateral sclerosis Muscle Skeletal Myopathy Gait Disorders Neurologic Inclusion Bodies Muscle Weakness Reverse Transcriptase Polymerase Chain Reaction business.industry Amyotrophic Lateral Sclerosis DNA Exons medicine.disease Amyotrophy Immunohistochemistry Pedigree Amino Acid Substitution Spinal Cord Neurology Mutation RNA-Binding Protein FUS Female Neurology (clinical) Age of onset medicine.symptom business |
| Zdroj: | Journal of the Neurological Sciences. 296:59-63 |
| ISSN: | 0022-510X |
| DOI: | 10.1016/j.jns.2010.06.008 |
| Popis: | Here we report a Japanese family with amyotrophic lateral sclerosis (ALS) characterized by very rapid progression, high penetrance and an autosomal dominant mode of inheritance. The phenotype includes atrophy of sternocleidomastoideus muscles, bulbar involvement, weakness of neck muscles and proximal muscle atrophy. These clinical symptoms are reminiscent of myopathy. All patients examined had similar clinical symptoms, age at onset and disease duration. The proband was found to have mutation R521C in the FUS/TLS gene, and was diagnosed as having ALS6. Autopsy material was available from the mother of the proband and FUS-immunoreactive neuronal and glial cytoplasmic inclusions were observed in the anterior horn of the spinal cord. While atrophy and weakness of the sternocleidomastoideus muscle is not emphasized in previous reports, this symptom may be a clinical hallmark of ALS6. |
| Databáze: | OpenAIRE |
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