Machado-Joseph disease/SCA3 and myotonic dystrophy type 1 in a single patient

Miura, Shiroh; Ohyagi, Yasumasa; Miike, Taro; Noda, Kazuhito; Motomura, Kyoko; Ayabe, Mitsuyoshi; Aizawa, Hisamichi; Taniwaki, Takayuki

doi:10.1016/j.clineuro.2009.07.016

« Previous Next »Clinical Neurology and Neurosurgery
Volume 111, Issue 10 , Pages 791-794, December 2009

Machado-Joseph disease/SCA3 and myotonic dystrophy type 1 in a single patient

Shiroh Miura
- Division of Respirology, Neurology, and Rheumatology, Department of Medicine, Kurume University School of Medicine, 67 Asahi-machi, Kurume 830-0011, Japan
- Corresponding author. Tel.: +81 942 31 7560; fax: +81 942 31 7703.
Yasumasa Ohyagi
- Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan
Taro Miike
- Division of Respirology, Neurology, and Rheumatology, Department of Medicine, Kurume University School of Medicine, 67 Asahi-machi, Kurume 830-0011, Japan
Kazuhito Noda
- Division of Respirology, Neurology, and Rheumatology, Department of Medicine, Kurume University School of Medicine, 67 Asahi-machi, Kurume 830-0011, Japan
Kyoko Motomura
- Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan
Mitsuyoshi Ayabe
- Division of Respirology, Neurology, and Rheumatology, Department of Medicine, Kurume University School of Medicine, 67 Asahi-machi, Kurume 830-0011, Japan
Hisamichi Aizawa
- Division of Respirology, Neurology, and Rheumatology, Department of Medicine, Kurume University School of Medicine, 67 Asahi-machi, Kurume 830-0011, Japan
Takayuki Taniwaki
- Division of Respirology, Neurology, and Rheumatology, Department of Medicine, Kurume University School of Medicine, 67 Asahi-machi, Kurume 830-0011, Japan

Received 24 December 2008; received in revised form 17 July 2009; accepted 25 July 2009.

Abstract

We report here, for the first time, the case of a 41-year-old man with both Machado-Joseph disease (MJD)/spinocerebellar ataxia type 3 (SCA3) and myotonic dystrophy type 1. The patient noted dysarthria at 14 years of age and unsteady gait at 30 years of age. Similar sized expansions of the CAG trinucleotide repeats in one allele of the ataxin-3 (ATXN3) gene were found in both the patient and his father, although in the other allele the length of the CAG repeats was shorter in the father compared with the patient. In the dystrophia myotonica protein kinase (DMPK) gene the CTG repeats were much more expanded in the patient compared with his father. Thus it is possible that, in the farther, the short CAG repeat in the non-expanded ATXN3 allele delayed the onset of cerebellar symptoms, and/or that the expanded CTG repeat in the DMPK gene in the patient accelerated the pathogenesis of MJD/SCA3.

Keywords: Machado-Joseph disease (MJD), Spinocerebellar ataxia type 3 (SCA3), Myotonic dystrophy type 1 (DM1), CAG repeat, CTG repeat