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A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion
被引:2
|作者:
Takahashi, Yoshiaki
[1
]
Morimoto, Nobutoshi
[1
]
Nada, Tomoaki
[1
]
Morimoto, Mizuki
[1
]
Eura, Nobuyuki
[2
]
Minami, Narihiro
[2
]
Nishino, Ichizo
[2
]
机构:
[1] Kagawa Prefectural Cent Hosp, Dept Neurol, 1-2-1 Asahi Cho, Takamatsu, Kagawa 7608557, Japan
[2] Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Neuromuscular Res, Tokyo, Japan
关键词:
Oculopharyngeal muscular dystrophy;
point mutation;
PABPN1;
protein;
polyalanine;
tryptophan;
D O I:
10.3233/JND-221669
中图分类号:
R74 [神经病学与精神病学];
学科分类号:
摘要:
Immediately after the initial methionine codon, the PABPN1 gene encodes a stretch of 10 alanines, 1 glycine, and 2 alanines. Oculopharyngeal muscular dystrophy (OPMD) is caused by the expansion of the first 10 alanine stretches. The only exception is the missense mutation of glycine at the 12th residue into alanine, which elongates the stretch to 13 alanines by connecting the first and second stretch with the addition of one alanine in between, indicating that the expansion or elongation of the alanine stretch results in OPMD. We report a 77-year-old man with the novel missense mutation c.34G > T (p.Gly12Trp) in PABPN1 gene whose clinicopathological findings were compatible with OPMD. He presented with slowly progressive bilateral ptosis, dysphagia, and symmetrical proximal dominant muscle weakness. Magnetic resonance imaging revealed selective fat replacement of the tongue, bilateral adductor magnus, and soleus muscles. Immunohistochemistry studies of the muscle biopsy sample revealed PABPN1-posibive aggregates in the myonuclei which have been reported to be specific to OPMD. This is the first OPMD case caused by neither the expansion nor the elongation of alanine stretch. The present case suggests that OPMD may be caused not only by triplet repeats but also by point mutations.
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页码:459 / 463
页数:5
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