A mother and a child with maternally inherited diabetes and deafness (MIDD) showing atrophy of the cerebrum, cerebellum and brainstem on magnetic resonance imaging (MRI)

Internal Medicine

Volumn 44, Issue 4, 2005, Pages 328-331

  Kobayashi, Zen ^a   Tsunemi, Taiji ^a   Miake, Hirotomo ^a   Tanaka, Seiichi ^a   Watabiki, Sadakiyo ^a   Morokuma, Yuri ^a  

^a Japanese Red Cross Society   (Japan)

Author keywords

Inherited diabetes and deafness (MIDD); Maternally; Mitochondrial diabetes; Mitochondrial disease

Indexed keywords

ALANINE; BROMAZEPAM; FLUNITRAZEPAM; FLUVOXAMINE; GLYCINE; INSULIN; METHYLPHENIDATE; MITOCHONDRIAL DNA; NITRAZEPAM; SULPIRIDE;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; BRAIN ATROPHY; BRAIN STEM; CASE REPORT; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; COMPUTER ASSISTED TOMOGRAPHY; DEPRESSION; DIABETES MELLITUS; DNA PURIFICATION; FAMILY HISTORY; FEMALE; HEARING AID; HOSPITAL ADMISSION; HUMAN; HUMAN CELL; LEUKOCYTE; MALE; MATERNALLY INHERITED DIABETES AND DEAFNESS; MINI MENTAL STATE EXAMINATION; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATIENT REFERRAL; POINT MUTATION;

ADULT; AGED; ATROPHY; BRAIN STEM; CEREBELLAR ATAXIA; DEAFNESS; DEPRESSION; DIABETES COMPLICATIONS; DIABETES MELLITUS; DNA, MITOCHONDRIAL; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; PEDIGREE; POINT MUTATION; TELENCEPHALON; TOMOGRAPHY, X-RAY COMPUTED;

EID: 18644369753     PISSN: 09182918     EISSN: None     Source Type: Journal    
DOI: 10.2169/internalmedicine.44.328     Document Type: Article

References (10)

1. Suzuki S, Oka Y, Kadowaki T, et al. Clinical features of diabetes mellitus with the mitochondrial DNA 3243 (A-G) mutation in Japanese: maternal inheritance and mitochondria-related complications. Diabetes Res Clin Pract 59: 207-217, 2003.
2. van den Ouweland JM, Lemkes HH, Ruitenbeek W, et al. Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet 1: 368-371, 1992.
3. Chinnery PF, Schon EA. Mitochondria. J Neurol Neurosurg Psychiatry 74: 1188-1199, 2003.
4. Guillausseau PJ, Massin P, Dubois-LaForgue D, et al. Maternally inherited diabetes and deafness: a multicenter study. Ann Intern Med 134: 721-728, 2001.
5. Suzuki Y, Hata T, Miyaoka H, et al. Diabetes with the 3243 mitochondrial tRNALeu(UUR) mutation. Characteristic neuroimaging findings. Diabetes Care 19: 739-743, 1996.
6. Kageyama Y, Ichikawa K, Fujioka A, Tsutsumi A, Yorifuji S, Miyoshi K. An autopsy case of mitochondrial encephalomyopathy with prominent degeneration in olivo-ponto-cerebellar system. Acta Neuropathol (Berl) 83: 99-103, 1991.
7. Hara K, Yamamoto M, Anegawa T, Sakuta R, Nakamura M. Mitochondrial encephalomyopathy associated with parkinsonism and a point mutation in the mitochondrial tRNA(Leu(UUR)) gene. Rinsho Shinkeigaku (Clin Neurol) 34: 361-365, 1994 (in Japanese, Abstract in English).
8. Lien LM, Lee HC, Wang KL, Chiu JC, Chiu HC, Wei YH. Involvement of nervous system in maternally inherited diabetes and deafness (MIDD) with the A3243G mutation of mitochondrial DNA. Acta Neurol Scand 103: 159-165, 2001.
9. Takano M, Fujita N, Kamoi K, et al. Exercises on a bicycle ergometer in a family of diabetes mellitus associated with a mutation of mitochondrial DNA. Rinsho Shinkeigaku (Clin Neurol) 38: 683-685, 1998 (in Japanese, Abstract in English).
10. Bouillot S, Martin-Negrier ML, Vital A, et al. Peripheral neuropathy associated with mitochondrial disorders: 8 cases and review of the literature. J Peripher Nerv Syst 7: 213-220, 2002.