A Japanese case of oculopharyngeal muscular dystrophy (OPMD) with PABPN1 c.35G > C; p.Gly12Ala point mutation

BMC Neurology

Yu-ichi Noto¹  Yo-suke Nishii¹  Shinji Ashida¹  Rei Yasuda¹  Takamasa Kitaoji¹  Eijirou Tanaka¹  Toshiki Mizuno¹  Ichizo Nishino²  Narihiro Minami² 

[1] Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kamigyo-ku, 602-0841, Kyoto, Japan;Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, 187-8502, Kodaira, Tokyo, Japan;

关键词: Oculopharyngeal muscular dystrophy (OPMD);    Poly(a) binding protein nuclear 1 (PABPN1);    Point mutation;    Muscle ultrasound;    Asian case;   

DOI  :  10.1186/s12883-021-02300-x

来源: Springer

【 摘 要 】

BackgroundOculopharyngeal muscular dystrophy (OPMD) is a late-onset muscular dystrophy characterised by slowly progressive ptosis, dysphagia, and proximal limb muscle weakness. A common cause of OPMD is the short expansion of a GCG or GCA trinucleotide repeat in PABPN1 gene.Case presentationA 78-year-old woman presented with ptosis and gradually progressive dysphagia. Her son had the same symptoms. A physical examination and muscle imaging (MRI and ultrasound) showed impairment of the tongue, proximal muscles of the upper limbs, and flexor muscles of the lower limbs. Needle-electromyography (EMG) of bulbar and facial muscles revealed a myopathic pattern. Based on the characteristic muscle involvement pattern and needle-EMG findings, we suspected that the patient had OPMD. Gene analysis revealed PABPN1 c.35G > C point mutation, which mimicked the effect of a common causative repeat expansion mutation of OPMD.ConclusionWe herein describe the first reported Japanese case of OPMD with PABPN1 point mutation, suggesting that this mutation is causative in Asians as well as in Europeans, in whom it was originally reported.

【 授权许可】

CC BY